Metabolic Evaluation in Children aged 3 months to 2 years with Global Developmental Delay.

OBJECTIVES: To study the clinical profile and role of metabolic evaluation in children aged 3 mo to 2 y with global developmental delay (GDD) of unclear etiology. METHODS: In this prospective study, demographic and clinical data along with first line metabolic test results [blood glucose, arterial blood sample analysis, renal function tests, uric acid, serum electrolytes, liver function tests (LFTs), plasma ammonia, arterial blood lactate and pyruvate, urine ketone/ reducing substances] were documented and analyzed. Tandem Mass Spectroscopy (TMS) and Gas Chromatography and Mass Spectrometry (GC-MS) data were also analysed. RESULTS: Of 101 eligible children, 48 were excluded. Among 53 children included in the study, 32 (60.3%) were less than 1 y and 21 (39.7%) were more than 1 y. Four major developmental domains were almost equally affected in 16 (30.1%), three domains in 4 (7.5%) and two domains in 33 (62.4%) children. Fourteen (26.4%) children were found to have a probable metabolic disorder based on initial tests- 10 mitochondrial disorders, 3 organic-acidemias and 1 fatty-acid-oxidation defect. Further, on TMS and GC-MS tests, 11 (20.7%) had a metabolic disorder- 7 mitochondriopathies, 2 methylmalonic-aciduria, 1 each with glutaric-acidemia and ethylmalonic-aciduria. CONCLUSIONS: Among children with GDD of unclear etiology, metabolic errors constitute a small proportion of etiology. In this group early metabolic tests could identify potentially treatable conditions.

Metabolic Bone Disease in Children With Transfusion-Dependent Thalassemia.

OBJECTIVE: This study aimed to detect metabolic bone disease and endocrinopathies in a cohort of patients with transfusion-dependent thalassemia (TDT). METHODS: This prospective study was conducted between March 2020 - August 2021. Children with TDT older than 5 years, receiving regular blood transfusion, underwent comprehensive endocrine and metabolic bone disease evaluation, which included screening for short stature, delayed puberty, diabetes mellitus, hypothyroidism, adrenal insufficiency and hypoparathyroidism. Children older than 10 years also underwent. X-ray of thoracolumbar spine, and dual energy X-ray absorptiometry (DXA) scanning. RESULTS: Out of 37 patients (19 males), with mean (SD) age 15 (6) years, hypogonadism was the commonest endocrine deficiency seen in 15 (62%), followed by short stature, abnormal glucose metabolism, subclinical adrenal insufficiency, hypothyroidism, and hypoparathyroidism. Vitamin D insufficiency/deficiency was seen in 12 (60%) and hypocalcemia in 2 patients. Low bone mass was seen in 8, and osteoporosis, as evidenced by vertebral fractures, in 4 patients. Of the four patients with vertebral fracture, three were aged ≤18 years, one was symptomatic, two each had grade 1 and grade 2 fractures, one had multiple vertebral fractures, and all four had hypogonadism and multiple endocrine deficiencies. CONCLUSION: Vertebral fractures occur even in the second decade among patients with TDT, and are often associated with endocrinopathies, most commonly hypogonadism. Early screening and prevention of vertebral fractures is necessary.

Hospital-based sentinel surveillance for bacterial meningitis in under-five children prior to the introduction of the PCV13 in India.

INTRODUCTION: A hospital-based sentinel surveillance network for bacterial meningitis was established in India to estimate the burden of bacterial meningitis, and the proportion of major vaccine-preventable causative organisms. This report summarises the findings of the surveillance conducted between March 2012, and September 2016 in eleven hospitals. METHODS: We enrolled eligible children with bacterial meningitis in the age group of one to 59 months. CSF samples were collected and processed for biochemistry, culture, latex agglutination, and real-time PCR. Pneumococcal isolates were serotyped and tested for antimicrobial susceptibility. RESULTS: Among 12 941 enrolled suspected meningitis cases, 586 (4.5%) were laboratory confirmed. S. pneumoniae (74.2%) was the most commonly detected pathogen, followed by H. influenzae (22.2%), and N. meningitidis (3.6%). Overall 58.1% of confirmed bacterial meningitis cases were children aged between one, and 11 months. H. influenzae meningitis cases had a high (12.3%) case fatality rate. The serotypes covered in PCV13 caused 72% pneumococcal infections, and the most common serotypes were 14 (18.3%), 6B (12.7%) and 19F (9.9%). Non-susceptibility to penicillin was 57%. Forty-five (43.7%) isolates exhibited multidrug resistance, of which 37 were PCV13 serotype isolates. CONCLUSIONS: The results are representative of the burden of bacterial meningitis among under-five children in India. The findings were useful in rolling out PCV in the National Immunization Program. The non-susceptibility to penicillin and multidrug resistance was an important observation. Timely expansion of PCV across India will significantly reduce the burden of antimicrobial resistance. Continued surveillance is needed to understand the trend after PCV expansion in India.

Clinical Profile and Outcome of Children with Congenital Obstructive Uropathy.

OBJECTIVES: To study the etiology and clinical profile of congenital obstructive uropathy in children, renal status and growth at diagnosis and at follow-up and to determine the predictors for development of chronic kidney disease (CKD). METHODS: An observational (retrospective-prospective) study was conducted at a tertiary care hospital in South India from September 2014 through September 2016. Sixty children diagnosed to have congenital obstructive uropathy with a minimum follow-up period of 5 y were included and followed up prospectively for 2 more years during the study period. The data of the children at admission and follow-up was obtained from the medical records and analyzed. RESULTS: Congenital uretero-pelvic junction obstruction followed by Posterior urethral valve were the most common etiologies identified. Male preponderance (88.3%) was observed with poor urinary stream being the most common presentation (36.6%). Forty percent of the population had elevated creatinine. Fifteen percent were hypertensive and 25% had growth failure at diagnosis. However, there was a reduction in the number of children with poor estimated glomerular filtration rate (eGFR), hypertension and growth faltering during follow-up. Among the risk factors, hypertension at diagnosis [O.R-12.8 (2.21-74.22) and p value <0.05] and frequent urinary tract infection (UTI) [O.R-14.06 (2.32-85.42) and p value <0.05] were the most important factors for CKD progression. Children with low eGFR (< 60 ml/min/1.73m2) had more height faltering and hypertension at follow-up (p value <0.05). CONCLUSIONS: Hypertension and frequent UTI were observed to be strongly associated with progression of CKD. Estimated GFR was found to be significantly associated with faltering of height and hypertension. Preserving the renal function prevents growth faltering and development of hypertension at follow-up thereby ensuring a better quality of life.

Concomitant Temporomandibular Joint Ankylosis and Maxillomandibular Fusion in a Child with Klippel- Feil Syndrome: A Case Report.

Klippel-Feil syndrome (KFS) is classically characterized by fusion of any of the two of seven cervical vertebrae. It is identified by the presence of a triad of clinical signs including short neck, limitation of head and neck movements and low posterior hairline. Unusual bony malformations leading to facial asymmetry is the most common oral manifestation associated with KFS. Such maxillomandibular fusion can also result in restricted mouth opening in children. It's a challenge to provide complete rehabilitation in such children. This paper presents a report of a type II KFS with both maxillomandibular fusion and temporomandibular joint ankylosis which led to the limited mouth opening in a six-year-old child. Also, the child showed an inadequate development of speech, facial asymmetry and compromised oral health owing to the restricted mouth opening. After thorough investigations, surgery was done which restored limited mouth opening which led to normalizing of speech and oral health.

Central nervous system melioidosis in the pediatric age group: review.

PURPOSE: Melioidosis is a potentially fatal infectious disease caused by Burkholderia pseudomallei. Neurologic involvement in pediatric age group is very rare, and only a handful of cases have been reported in literature. We sought to provide a systematic review of pediatric neurologic melioidosis. METHODS: Literature review was performed to analyze reported cases of pediatric neurologic melioidosis (≤16 years) by searching online database (PubMed/MEDLINE). RESULTS: Twenty-seven cases were analyzed. Mean age was 6.7 years (range 2 days-14 years) and around 50% were older children (>5 years). Cranial nerve palsies and fever were most common presenting features. Major manifestations were meningoencephalitis in 16 (59%) and cerebral abscesses in eight (29%) cases. Abscesses were mostly located in parietal lobe. Among older children, abscesses were common than meningeal disease, while being converse for neonates. Mean follow-up duration was 11.5 months. Ten cases showed good to excellent outcome, while eight cases had fair (incomplete recovery) outcomes. The overall mortality rate was 18.5% (5/27) and tends to decrease with age. Among the five deaths, 4 (80%) had septicemia or pneumonia. CONCLUSIONS: Pediatric neurologic melioidosis is very rare. Meningoencephalitis is the most common presentation. Mortality is the highest in neonates. Ceftazidime appears to be the drug of choice in intensive phase, although the best drug in maintenance phase cannot be commented upon, especially in very young children.

Pediatric melioidosis in Southern India.

Melioidosis in children is increasingly detected from the coastal region of Southern India during monsoon. We present 11 cases of melioidosis, ranging from localized to disseminated, treated successfully, barring one death. It calls for awareness and upgrading laboratory facilities for better diagnosis and management of pediatric melioidosis.

Clinicohematological study of thrombocytosis in children.

Introduction. Primary thrombocytosis is very rare in children; reactive thrombocytosis is frequently observed in children with infections, anemia, and many other causes. Aims and Objectives. To identify the etiology of thrombocytosis in children and to analyze platelet indices (MPV, PDW, and PCT) in children with thrombocytosis. Study Design. A prospective observational study. Material and Methods. A total of 1000 patients with thrombocytosis (platelet > 400 × 10(9)/L) were studied over a period of 2 years. Platelet distribution width (PDW), mean platelet volume (MPV), and plateletcrit (PCT) were noted. Results. Of 1000 patients, 99.8% had secondary thrombocytosis and only two children had primary thrombocytosis (chronic myeloid leukemia and acute myelogenous leukemia, M7). The majority of the children belonged to the age group of 1month to 2 years (39.7%) and male to female ratio was 1.6 : 1. Infection with anemia (48.3%) was the most common cause of secondary thrombocytosis followed by iron deficiency alone (17.2%) and infection alone (16.2%). Respiratory infection (28.3%) was the predominant infectious cause observed. Thrombocytosis was commonly associated with IDA among all causes of anemia and severity of thrombocytosis increased with severity of anemia (P = 0.021). With increasing platelet count, there was a decrease in MPV (<0.001). Platelet count and mean PDW among children with infection and anemia were significantly higher than those among children with infection alone and anemia alone. None were observed to have thromboembolic manifestations. Conclusions. Primary thrombocytosis is extremely rare in children than secondary thrombocytosis. Infections in association with anemia are most commonly associated with reactive thrombocytosis and severity of thrombocytosis increases with severity of anemia.

Finlay-Marks syndrome: report of two siblings and review of literature.

Finlay-Marks syndrome (scalp-ear-nipple syndrome), is the infrequently reported association of scalp aplasia, malformed ears, and breast abnormalities varying from small nipples to complete absence of breasts. Other manifestations are variable and some of them resemble ectodermal dysplasia and include dystrophy of nails and teeth, sparse hair, decreased sweating, and cutaneous syndactyly of digits. Renal anomalies have been reported in some patients leading to hypertension and renal insufficiency. Most reported patients have been sporadic but familial occurrences following an autosomal dominant pattern of inheritance have been reported. We report on two affected siblings, of whom one died in the neonatal period due to renal failure. Two affected siblings born to non-affected parents may suggest an autosomal recessive inheritance.

Case report on an infant presenting with hypoglycemia, and milky serum.

A 4-month-old male baby who presented in a moribund condition with seizures was found to have hepatomegaly, hypoglycemia and milky serum. Serum triglycerides were markedly elevated (3 168 mg/dL) with cholesterol being 257 mg/dL and high density lipoprotein levels were low (19 mg/dL). The possibility of glycogen storage disease type I was considered in the diagnosis. Infants with glycogen storage disease type I may present like sepsis. The association of hepatomegaly, hypoglycemia and abnormal lipid profile stated above should alert the physician to consider glycogen storage disease type I in the diagnosis.

Case report on an infant presenting with hypoglycemia, and milky serum

A 4-month-old male baby who presented in a moribund condition with seizures was found to have hepatomegaly, hypoglycemia and milky serum. Serum triglycerides were markedly elevated (3168 mg/dL) with cholesterol being 257 mg/dL and high density lipoprotein levels were low (19 mg/dL). The possibility of glycogen storage disease type I was considered in the diagnosis. Infants with glycogen storage disease type I may present like sepsis. The association of hepatomegaly, hypoglycemia and abnormal lipid profile stated above should alert the physician to consider glycogen storage disease type I in the diagnosis.

Factor XIII Deficiency in Siblings: Importance of Prophylactic Replacement.

Factor XIII deficiency, an autosomal recessive trait, can result in serious bleeding manifestation. This case report presents two brothers with Factor XIII deficiency. Though the younger sibling had been screened and diagnosed prophylactic replacement therapy had not been initiated unlike the elder brother. He presented with intracranial haemorrhage needing surgical evacuation while the elder brother remained symptom free on regular prophylactic replacement of FFP.

Oxidative stress in sepsis in children.

BACKGROUND & OBJECTIVE: Information on oxidative damage during sepsis in children is not available, we undertook this study to assess the levels of certain antioxidants in blood of children with sepsis. METHODS: Study group had 38 children with sepsis (<5 yr) and 39 age-and sex-matched controls admitted to a tertiary care hospital. Red cell glutathione (GSH), superoxide dismutase (SOD) and thiobarbituric acid reactive substance (TBARS) and plasma vitamin C were estimated by standard techniques. RESULTS: There was no significant change in erythrocyte GSH, SOD and TBARS levels in sepsis when compared to controls. This may be due to the adaptive response of the body to combat the oxidative stress. However, plasma vitamin C levels were significantly reduced in patients aged one year one month to five years which may be due to active phagocytosis and due to its role as a free radical scavenger. INTERPRETATION & CONCLUSION: Our findings show that children affected by sepsis probably adapt to the free radical toxicity induced by this condition. Further studies need to be done on a larger sample to confirm the findings.

Vaginal endodermal sinus tumor.

Malignant germ cell tumors are rare tumors of childhood accounting less than 3% of pediatric malignancies, and endodermal sinus tumor (EST) is the most common histological subtype. The vagina is an extremely rare site for germ cell tumors (GCT). A one-year female was admitted with history of bleeding per vagina. She had pallor and a mass was palpable anteriorly on rectal examination. Magnetic Resonance Imaging (MRI) showed a tumor mass at the junction of cervix and vagina and biopsy was suggestive of a vaginal EST. The serum alpha fetoprotein (AFP) was elevated. She underwent vaginohysterectomy. The tumor was excised in toto and patient received four courses of cisplatin, etoposide and bleomycin. At one year of follow up, patient was symptom free and serum AFP remained at normal level. EST of the vagina is a rare, highly malignant GCT that exclusively involves children less than 3 years of age. It is both locally aggressive and capable of metastasis. Even though more conservative surgery is advised to maintain sexual and reproductive function, at times, radical surgery is mandatory depending on the infiltration of the tumor to the surrounding structures. Simple tumor excision is not sufficient, as residual cells induce recurrence and make chemotherapy ineffective. The serum AFP level is a useful marker for diagnosis and monitoring the recurrence of vaginal EST in infants.

Congenital tuberculosis associated with maternal asymptomatic endometrial tuberculosis.

This is a report of a 4-month-old baby girl who presented with respiratory distress, bronchopneumonia, marasmus and hepatosplenomegaly and proved to have congenital tuberculosis on the basis of a strongly positive Mantoux test and liver biopsy findings. Endometrial biopsy in the asymptomatic mother confirmed the source of infection and the perinatal onset of illness. The age range of previously reported cases of congenital tuberculosis is 1-84 days and this case would appear to be the latest presentation of congenital tuberculosis in the literature.