Background: Approximately 5% of COVID-19 patients suffer from near-fatal disease. Clinical and radiologic features may predict severe disease although with limited specificity and radiation hazard. Laboratory biomarkers are specific, simple, and point-of-care triage tools that can be used to predict the severity of the disease. This research aimed to study the role of inflammatory markers (serum ferritin, lactate dehydrogenase [LDH], D-dimer, and C-reactive protein [CRP]) in prognosticating COVID-19 patients. Methodology: This was a hospital-based retrospective study conducted on COVID-19 adult inpatients classified into three groups: mild disease-recovered (Group I), severe disease-recovered (Group II), and dead (Group III). Categorical outcomes were compared using the Chi-square test. Univariate binary logistic regression analysis was performed to test the association between the outcome and explanatory variables. An unadjusted odds ratio (OR) along with a 95% confidence interval was calculated. The utility of laboratory parameters (ferritin, LDH, neutrophil/lymphocyte ratio, D-dimer, and platelet/lymphocyte ratio) in predicting the severity of COVID-19 was assessed by the receiver operative curve analysis. P < 0.05 was considered statistically significant. Results: A total of 500 case records were analyzed. The mean age was 49.32 ± 17.1 years. About 72.4% were <60 years and 301 male and 199 female patients were included. The comorbidity count included diabetes 168 (33.6%), hypertension 122 (24.4%), coronary artery disease 23 (4.6%), hypothyroidism 3 (6%), and others 33 (6.6%) The median levels of ferritin among the three groups differed significantly bearing higher levels in Group 3 (P < 0.001). Median LDH and D-dimer values of the three groups showed statistical significance (P < 0.001). Qualitative CRP was significantly associated with poor outcomes (P < 0.001). The odds of patients suffering severe COVID-19 rose with rising values of ferritin, LDH, and D-dimer (unadjusted OR: 1.007, 1.004, and 1.020). Conclusion: Onetime measurement of serum ferritin, LDH, D-dimer, and CRP performed between 7^th and 10^th day of symptoms significantly predicted outcomes for COVID-19 inpatients.

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Background: Anxiety is often encountered but overlooked in patients undergoing elective surgery. Anxiety may influence the perception of postoperative pain which is one of the major concerns for all patients. This study aimed to evaluate the effect of preoperative anxiety on postoperative pain and to find if any relation exists between demographic variables and anxiety in cesarean patients. Methodology: One hundred and twelve patients undergoing elective cesarean section under spinal anesthesia were evaluated for preoperative anxiety on the day before surgery using the Amsterdam Preoperative Anxiety and Information Scale questionnaire-based face-to-face interview, and postoperative pain was recorded every 6 h after surgery for 24 h using the Visual Analog Scale (VAS). Results: The prevalence of preoperative anxiety in the study subjects was 36%. The need for high information was 22%. The mean for anesthesia-related anxiety, information desire component, combined anxiety score, and VAS scores was 4.21 ± 2.63, 3.23 ± 2.15, 8.72 ± 4.60, and 5.30 ± 1.86, respectively. Postoperative pain was found to be correlating with higher levels of preoperative anxiety (r = 0.25, P < 0.01). Information desire component was found to have a positive, moderate, and significant correlation with anxiety score (r = 0.49, P < 0.01). No statistically significant relationship was found between sociodemographic characteristics and preoperative anxiety. Conclusion: This study demonstrated a positive and statistically significant correlation between preoperative anxiety and postoperative pain. Well-conducted randomized controlled studies are required to determine whether reducing anxiety before a surgery results in reduced postoperative pain response. Anxiety-reducing measures can be employed throughout the preoperative period in the surgical population to reduce postoperative pain in addition to analgesics.

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Background: Risperidone is a second-generation antipsychotic, which exerts its action by antagonizing dopamine (D₂) and serotonin (5-HT_2A) receptors. Amenorrhea is a common adverse effect observed in risperidone. Risperidone blocks the dopamine receptor of lactotroph cells of the pituitary gland, resulting in loss of the inhibitory effect of dopamine on prolactin. The resultant hyperprolactinemia decreases estrogen through its impact on the pulsatile secretion of gonadotropins and ovarian follicular growth leading to amenorrhea. Identifying the associated clinical parameters will aid in predicting the occurrence of amenorrhea in patients on treatment with risperidone, especially in a setting devoid of prolactin estimation. The objective of this study was to compare the clinical profile of patients with and without risperidone-induced amenorrhea. Methodology: A cross-sectional comparative study was done in a tertiary care hospital. A total of 30 female patients on risperidone who developed amenorrhea were recruited, and age-matched patients on risperidone without amenorrhea were taken as controls. The clinical parameters of the groups were compared using the Mann–Whitney U-test. Binary logistic regression was used to predict the clinical predictors associated with risperidone-induced amenorrhea. Results: The amenorrhea group had a significantly longer duration of untreated psychosis (DUP) (P = 0.011), duration of total treatment (P = 0.003), and duration of treatment exclusively with risperidone (P = 0.002). No significant differences were noted in the dose of risperidone (P = 0.570) and the diagnosis (P = 0.455) between the groups. However, the regression test did not confer any risk due to any clinical parameters. Conclusion: Individuals who developed amenorrhea had a longer DUP and a longer duration of treatment exclusively with risperidone.

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Background: Worldwide COVID-19 infection has played havoc. The number of COVID-positive pregnant cases in this study was not far behind the National average. The present study was conducted to evaluate the outcome of COVID-19 infection in pregnant women during their antenatal, intrapartum, and postnatal periods. Methodology: The study design was a prospective cohort study. The total number of COVID-19 pregnant patients admitted to this tertiary care hospital from March 2020 to June 2021 was 106 cases at various trimesters. This hospital caters to serving personnel, ex-servicemen, and dependents of the Indian Armed Forces. The community being studied were only the dependents and the serving female personnel. Proper history, presenting complaints, period of gestation, obstetric and systemic examination findings, the severity of symptoms, home isolation or hospital stay, and treatment were all recorded in the form of the questionnaire. Finally, the antenatal, intrapartum, postnatal, and neonatal outcomes of these COVID-positive pregnant patients were compiled and studied. Results: The prevalence of COVID-positive pregnant women in the community being studied was 9.9%. About 43.39% of the cases were diagnosed in the third trimester. Ninety-three percent of the patients in the present study were asymptomatic or with very mild symptoms. The mode of delivery in the present study was mostly by cesarean section (69.56%). Conclusion: In the present study, pregnancy-associated complications were within the range of 2.8%–3% and only two newborns were COVID positive.

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Background: Rising antimicrobial resistance (AMR) rate is a challenge for treating patients in health-care settings globally. Most intensive care unit (ICU) patients are frequently on antimicrobial agents; this induces selective antibiotic pressure and increases the threat of the development of AMR. The objective of this study was to document the microbiological profile and antimicrobial susceptibility pattern of the isolates from blood culture-confirmed cases of sepsis from ICUs at a tertiary care center. Materials and Methods: A retrospective data collection was conducted after obtaining a waiver of consent from the institute ethics committee. A total of 151 patients, aged 18 years and above, admitted to the ICUs between January and December 2019 with blood culture-proven sepsis were included in the study. Data on demographic details, ICU stay, underlying risk factors, infecting organisms, and antimicrobial susceptibility reports were collected and analyzed using Microsoft Excel. Results: A total of 1020 clinically suspected sepsis patients were admitted to the ICUs during the study period. Of these, 151 patients (14.8%) had blood culture-proven sepsis. Gram-negative bacteria were the most frequent isolates (63.6%), among which Escherichia coli was the most common pathogen (25%), followed by Klebsiella pneumoniae (15%), and Acinetobacter baumannii (13.6%). The rate of resistance was more against cephalosporins as compared to carbapenems and tigecycline. Commonly documented gram-positive bacterial isolates were coagulase-negative staphylococci (8.6%), viridans streptococci (7.1%), and Staphylococcus aureus (5%). About 65.2% of penicillin-resistance and 15.8% of methicillin-resistant staphylococci were documented. Conclusion: This study on AMR was useful to know the prevalence of sepsis among ICU inpatients and the microbiological profile with their AMR pattern in our tertiary care hospital. This may help to generate local antibiograms which may further contribute to formulating the national data. Based on available antibiogram data, the choice of antibiotics for empiric treatment becomes easier. It may also guide the clinicians to escalate or de-escalate the antibiotics wherever possible.

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Diagnosis of Turner syndrome (TS) is usually made in mid-childhood, where 50% of the patients have 45, X karyotype in peripheral lymphocytes, which results from haploinsufficiency of the genes that commonly escape X-inactivation. 30%–40% have mosaicism of different forms, like 45,X/46,X,dic(Xp)/46,X,idic(Xq) and less commonly 45,X/46,XY. The goal of this case report is to analyze the cytogenetic and molecular characterization of two cases with dicentric X chromosomal abnormalities with varying degrees of mosaicism, demonstrating shared clinical features of TS. Combined conventional cytogenetic analysis, centromere banding, and fluorescence in situ hybridization (FISH) was done for the patients who presented with short stature and irregular menstrual cycles. Chromosome studies showed two cell lines: one with a single copy of X chromosome (45,X) and the other with a structural variation in X chromosome (isodicentric X chromosome), which is described as a Turner variant. C-banding also revealed the presence of two centromeres. Metaphase FISH with centromere probes for X revealed two mosaic cell lines: one with 45,X and a second one showing isodicentric X chromosome. The accurate diagnosis and characterization of a genomic imbalance in patients with sex chromosome disorders are essential for evaluating phenotype–karyotype correlations, genetic counseling, and having a clinical follow-up.

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Balanoposthitis is a common inflammatory condition of the glans and prepuce among sexually active men in sexually transmitted diseases clinics. The common causes of this condition are infective, most commonly candidal, followed by bacterial and inflammatory. Among young uncircumcised men who are not sexually active, balanoposthitis may be the first clinical sign of underlying Type II diabetes mellitus (DM). Here, we present one such patient who presented with balanoposthitis and penile cellulitis. On initial workup, he was found to be a diabetic with poor control (HbA1c 11%), and on further investigations, he was found to have Staphylococcal balanoposthitis. He was initially managed with intravenous antibiotics, insulin therapy, and a dorsal slit of the prepuce, followed by circumcision, insulin, and oral hypoglycemic agents. DM should be suspected in all uncircumcised males presenting with balanoposthitis in the absence of positive contact history.

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Patients with ureteral obstruction often present a diagnostic dilemma on imaging techniques. Ureteritis cystica (UC) is one benign condition which can occasionally be a cause of ureteric obstruction and almost always eludes diagnosis unless ureteroscopic examination is performed. Although no definitive operative technique has been defined for its cure in the literature, ureteroscopic laser ablation is an effective minimally invasive option. We hereby present a short case report of thulium laser ablation in an elderly female with UC in the left upper ureter.

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The most common symptoms of severe acute respiratory syndrome–COVID-19 (SARS-CoV-2) infection are fever and cough, followed by headache, fatigue, or shortness of breath. The most severe presentations include pneumonia (91.1%) and acute respiratory distress syndrome (67%). In this case series, we report the evidence of cardiac tissue inflammation as a possible sequela of the respiratory infection. In May 2021, 16 patients (median age: 43 years, 10 males and 6 females) out of 95 patients, between the 6^th and 10^th days following admission in the intensive care unit, complained of sudden onset of excruciating chest pain. Changes in electrocardiography rhythm with evidence for diffuse ischemia were supported by positive Trop-T and echo findings in most of the patients. In this case series, we report the evidence of cardiac tissue inflammation as a possible sequel of the respiratory infection.

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The incidence rate of acute flaccid myelitis (AFM) in India was 12/100,000 people, whereas it is 0.71/million in the United States. The incidence of nonpolio AFM has increased over the years.^[1] We present a young infant with a 3-day fever followed by irritability and paucity of movements of the left lower limb for 24 hours. The initial laboratory evaluation was negative for bacterial meningitis. However, a polymerase chain reaction was used to detect enterovirus ribonucleic acid in cerebrospinal fluid. The patient's condition improved as a result of supportive care. This case shows a serious nonpolio enteroviral central nerve infection that presents as acute flaccid paralysis.

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Anesthetic management of cardiac patients with low ejection fraction (EF) on two-dimensional echocardiography is a challenge. Underlying cardiac condition, type and duration of surgery and overall optimization of the patient determine the plan of anesthesia in these patients. Hypobaric spinal anesthesia (SA) known for its role in anorectal procedures was found to be a suitable tool in the management of cardiac patients with low EF who underwent infraumbilical surgeries in our case series. Hypobaric SA with 0.1% bupivacaine and fentanyl as an adjuvant gave a satisfactory outcome without significant hemodynamic changes with its differential blockade nature. We found it to be a simpler, safer, economical, and efficient technique which lasted for an average duration of 2½ hours, although it is a rarely practiced technique. We conclude that the practice of hypobaric SA can be considered one of the options in the anesthetic management of infraumbilical superficial surgeries of moderate duration in cardiac patients with low EF.

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Background: Prescription analysis is the simplest method to observe the current treatment practice in any health-care setting. Biopharmaceuticals are a class of drugs that hold great promise in treating diseases. In recent years, there has been an increase in their consumption. The present analysis was carried out to obtain data on the prescribing patterns and the prevalence of the use of biologics in two departments of a tertiary care hospital through a cross-sectional study. Methodology: The study was conducted as an observational study in the departments of rheumatology and endocrinology of a tertiary care hospital in western India. Data were collected from the prescription notebooks or medical case sheets of patients on treatment in the outpatient departments (OPDs) or wards by the rheumatologists or endocrinologists of the hospital. The World Health Organization core drug use indicators for drug prescription analysis were calculated. Results: A total of 4684 drugs had been prescribed in the 874 patient encounters analyzed with the average number of drugs per prescription being 5.36. While 13.3% of prescriptions in the rheumatology department contained a biologic, more than 55% of prescriptions in the endocrinology department contained a biologic. The commonly used biologics were infliximab and etanercept in the rheumatology department and insulin analogs in the endocrinology department. Conclusion: The use of eight types of biologics in rheumatoid arthritis patients in this study is an indicator of active monitoring of the disease and early intervention. The present study has brought out the rational use of biologics such as infliximab and etanercept in rheumatology and insulin analogs in the endocrinology departments of the hospital.

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Background: Diabetes mellitus (DM) has become a global disease that is affecting millions of people, and currently, India has about 50 million patients. Urinary tract infections (UTIs) have long been recognized as a significant problem in patients with DM. This study aimed to find out the pathogenic microorganisms and antibiotic sensitivity patterns for UTI in diabetes patients. Methodology: This was a cross-sectional study conducted in the Department of Microbiology at a tertiary care hospital. The duration of the study was for 10 months. Diabetic status was confirmed as per the recommended diagnostic criteria. The identification of the bacterial isolates and antimicrobial sensitivity was carried out by conventional or Vitek-2 compact system. Data were entered in Microsoft Excel and were analyzed using the SPSS version 20. Variables were represented by the frequency and percentage analysis. Results: There were 59 positive urine cultures in diabetes patients from January 2021 to October 2021, and the highest number of patients belong to the >70 years' age group. Escherichia coli was the predominant organism isolated and was most sensitive to carbapenems. Conclusions: In our study, the elderly female population were found to be the most vulnerable group. The highest sensitivity was observed in carbapenem which can be used for empirical treatment in admitted patients.

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Background: Diabetes is primarily a genetic disorder. Whether the forearm muscle fatigue, handgrip strength (HGS), and phase angle difference between young adults with diabetic genes and their counterparts are not known. We designed a cross-sectional study to compare these variables among young healthy adults with diabetic parents in one group and nondiabetic parents in the other. Methodology: Forearm muscle fatigue, HGS, and phase angle were measured in 60 young healthy adults aged 18 to 23 years with body mass index between 18 and 23.4. Among them, 30 had at least one parent who had been a diabetic for more than 3 years and the other thirty had nondiabetic parents (both parents having fasting blood sugar <100 mg/dl). Results: The continuous variables between the groups, which were normally distributed, were analyzed using the independent sample t-test. Data that were nonnormally distributed were analyzed using the Mann–Whitney U test. Forearm muscle fatigue of young adults with diabetic parents increased significantly compared to their counterparts (P = 0.005). HGS was greater among adults with nondiabetic parents compared to adults with diabetic parents, although this was not statistically significant. Phase angle did not show any significant difference between the two groups. Conclusion: A simple noninvasive measurement like forearm muscle fatigue is found to be increased among young healthy adults with diabetogenic genes when compared to their counterparts without diabetogenic genes. Prospective studies need to be performed to show increased muscle fatigue as a predictor of future incidence of diabetes.

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Background: Antibiotics are one of the major medications used in the intensive care unit (ICU). It is a matter of concern as inappropriate usage of antibiotics in the ICU has led to the development of many infections due to multidrug-resistant (MDR) organisms. The aim was to monitor and assess the empirical antibiotic treatment initiated and the changes made in antimicrobial therapy following the culture report. Methodology: The study was conducted from May 2018 to June 2018 after obtaining ethical clearance from the institute ethics committee which was a cross-sectional prospective type of study. One hundred patients who were on antibiotics were included in the study. A total of 249 culture samples were sent which included blood, urine, endotracheal aspirate, sputum, cerebrospinal fluid, wound swab, etc., The patients were started empirically with antibiotics ceftriaxone, imipenem, meropenem, amikacin, azithromycin, etc., The microorganisms grown in the culture were Escherichia coli, Acinetobacter species, Staphylococcus aureus, Pseudomonas aeruginosa, etc. Results: It was observed that for 54 patients, the empirical antibiotic treatment was continued, for 39 patients, there was a change in antibiotics following the culture report, and for Seven patients, the antibiotics were stopped. Among 39 patients, for 23 patients, there was an escalation, and for 16 patients, there was a de-escalation in the usage of antibiotics from the initial empirical treatment given. Conclusion: A proper prescription pattern and a standard antibiotic policy for prescribing antibiotics are needed to prevent the future development of MDR strains.

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Background: Postpartum hemorrhage (PPH) is the most common cause of maternal mortality worldwide. Significant numbers are preventable, especially in low-resource settings. Active management of the third stage of labor (AMTSL) is a key denominator. The present study aimed to compare sublingual misoprostol with intramuscular oxytocin in AMTSL to search for an easy and effective alternative for low-resource settings. Materials and Methods: A prospective randomized comparative study was conducted, where the subjects were registered over 1 year extending from May 2020 to June 2021 including 200 patients admitted to the labor room with term pregnancy with a period of gestation between 37 and 42 weeks and were divided into two groups, Group A and Group B receiving intramuscular oxytocin and sublingual misoprostol, respectively. Results: Sublingual misoprostol was equally effective compared with intramuscular oxytocin in the prevention of PPH. There were no statistical differences in the duration of the third stage of labor, need for additional uterotonics, need for manual removal of placenta, and need for blood transfusion in the two groups. Conclusion: Sublingual misoprostol appeared to be as effective as intramuscular oxytocin in the AMTSL and may be an alternative, especially in low-resource settings.

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Background: Dengue virus infection is an important global public health issue. India is one of the high-burden countries with the resurgence of dengue in recent years. Surveillance based on hospital data can be misleading. Seroprevalence studies in the community are extremely useful in measuring the extent of transmission. This community-based study was done to identify the breeding sites of the Aedes mosquito and measure the seroprevalence of dengue infection in an urban area of Puducherry. Methodology: A cross-sectional study was done for 6 months in an urban area of Puducherry to assess the breeding sites for dengue and to find the serological prevalence of dengue. House-to-house visits were done in the study area to collect details on sociodemographic data, environmental data, and breeding sites for dengue. Blood samples were obtained from all willing participants aged 9 years and above to detect specific immunoglobulin G antibodies to dengue virus by enzyme-linked immunosorbent assay. Results: The seroprevalence of dengue infection was found to be 8.3%. Flower vase with water 72 (18%), animal water container 32 (8%), roof gutter/sunshades, 25 (6.3%), and open water storage tanks 18 (4.5%) were the most commonly prevalent breeding sites in the study area. The houses with potential breeding sites, such as roof gutters and sunshades, were significantly associated with the prevalence of dengue seropositivity among the study participants. Conclusion: The seroprevalence was found to be relatively low in the study area and the potential breeding sites for dengue were identified.

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Background: Neonatal hyperbilirubinemia is a commonly encountered problem in the early neonatal period. Hence, this study was undertaken in babies with significant hyperbilirubinemia to find out the factors which had caused an early rise of bilirubin (≤48 h) in some neonates compared to those who develop hyperbilirubinemia by 72 h. Factors that can predict early hyperbilirubinemia will help in early intervention. Methodology: This cross-sectional study was conducted in the neonatal intensive care unit of a tertiary care center from March 2021 to January 2022 among 405 healthy term neonates with significant hyperbilirubinemia. Serum bilirubin values were routinely done at 72 h, and earlier at 48 h if clinical icterus was noted by Kramer's rule and divided into two groups – one with hyperbilirubinemia at 48 h and another with hyperbilirubinemia by 72 h. Statistical analysis was done to find out the factors which could predict early hyperbilirubinemia. Results: Of the 405 neonates with significant hyperbilirubinemia, 270 (66.6%) had early hyperbilirubinemia and 135 (33.3%) had hyperbilirubinemia by 72 h. There were no statistically significant differences between the two groups with respect to sex, birth weight, mode of delivery, and baby blood group. Forty-two (49.4%) neonates with umbilical cord bilirubin (UCB) <2 mg/dl, 113 (65.6%) with UCB 2–2.5 mg/dl, 75 (72.1%) with UCB 2.5–3 mg/dl, 34 (89.5%) with UCB 3–3.5 mg/dl, and 6 (100%) with UCB >3.5 mg/dl developed early hyperbilirubinemia. Sixty-four (79%) neonates with bilirubin–albumin ratio (BAR) ≥0.79 developed early hyperbilirubinemia compared to 206 (63.6%) neonates with BAR <0.79 who had early hyperbilirubinemia. Conclusions: The UCB and bilirubin–albumin ratio correlated well with the development of early hyperbilirubinemia. Hence, it was concluded that those babies with a high UCB >2.1 mg/dl and/or high BAR ≥0.79 should be screened early for the development of hyperbilirubinemia.

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Background: Preeclampsia is called the “disease of theories” because its direct cause is still debated. Among all maternal deaths worldwide, 19% of deaths are due to hypertension during pregnancy (World Health Organization 2014). Early diagnosis and management remain the cornerstone in the management of preeclampsia. Estimation of serum lipid profile early in pregnancy could help to identify high-risk cases prone to preeclampsia, thereby reducing morbidity and mortality associated with preeclampsia. The study aimed to determine the role of serum lipid profile in the early prediction of preeclampsia. Methodology: This was a hospital-based prospective study done among pregnant women with a period of gestation of 20 ± 1 week enrolled after screening for inclusion and exclusion criteria and informed consent and institutional ethical committee approval, samples for lipid profile were taken. Patients were divided into two groups (100 each) based on lipid profile – Group A: normal lipid profile and Group B: abnormal lipid profile. Both groups were followed and closely observed for the development of hypertension, albuminuria, and signs and symptoms of preeclampsia. Data were collected and systematically analyzed. Results: In Group A, eight participants developed preeclampsia, whereas in Group B, 27 participants developed preeclampsia during the study period. The difference was found statistically significant (P = 0.003). Conclusion: In our study, it was observed that dyslipidemia in pregnancy is positively associated with an increased risk of preeclampsia.

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Gastroesophageal reflux disease (GERD) and laryngopharyngeal reflux (LPR) are inflammatory sequelae following the backflow of stomach contents to the esophagus or larynx/pharynx, respectively, the latter most often occurring in GERD. Unlike adults, the clinical parameters of “reflux symptom index” and “reflux finding score” are not routinely done in children suspected of LPR associated with GERD. Proton-pump inhibitor (PPI) trial with a 50% reduction of symptom severity following 2–4 weeks of empirical PPI, which is then continued for 12 weeks, is considered a valuable diagnostic and therapeutic tool for GERD in children. We present our successful management of an 8-year-old child, who had primarily respiratory symptoms with no associated respiratory, cardiac, or neurological etiology. Clinical evidence of underlying LPR secondary to GERD was confirmed by otolaryngologists with Reflux Finding Score. Significant psychosocial risk factors observed during her evaluation were addressed by psychologists. PPI therapy and behavioral therapy were initiated and the child improved drastically. The association of significant psychological issues in family and the social context appears to be significant in childhood GERD. A multidisciplinary comprehensive clinical approach is the cornerstone for its successful medical management.

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Ovarian tumors in children and adolescents are rare. We present a case of a 15-year-old girl with mucinous cystadenoma (MCA) which was diagnosed incidentally when evaluating for anemia and reduced appetite. The scan reports suggested a large ovarian cyst with a few thick enhancing septa. Serological markers were within normal limits. She underwent a cystectomy with salpingo-oophorectomy. The cyst was reported as MCA on histopathology. The child is on regular follow-up for 6 months with no adverse events.

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Hereditary spastic paraplegia (HSP), is a heterogeneous group of corticospinal tract disorders leading to progressive lower limb weakness and spasticity. Recessive mutations in DDHD2 characteristically involve early onset delay in motor and cognitive milestones coupled with spasticity. The complex nature of HSP is always confounding for appropriate management. An 11-year-old boy was brought by his parents for developmental delay noticed from 7 months of age and was diagnosed to have possible spastic cerebral palsy initially. Due to increasing spasticity, he underwent tendon release surgery for achilles and iliopsoas at 4 years of age. Now, he presented to us with increasing stiffness in his lower limbs even after regular physical therapy and myoclonic jerks. He had severe spasticity in the lower limbs with a power of 4/5. His activities of daily living were restricted due to severe spasticity. The lower limb deep tendon reflexes are exaggerated with positive Babinski sign and Scissoring of gait. He also had a mild intellectual disability. He was started on symptomatic management with muscle relaxants. Clinical exome sequencing showed a novel homozygous nonsense variation in exon 6 of DDHD2 gene. Prenatal genetic counseling was given for the next pregnancy and hence chorionic villus sampling for the variant testing of the developing fetus was done. The reports revealed a heterozygous state and asymptomatic carrier, unlikely to be affected by DDHD2-associated phenotype (spastic paraplegia genes 54). HSP should be considered when there is global developmental delay and increasing spasticity in lower limbs despite rehabilitation therapies.

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