Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities.

Genetic disorders with predominant central nervous system white matter abnormalities (CNS WMAs), also called leukodystrophies, are heterogeneous entities. We ascertained 117 individuals with CNS WMAs from 104 unrelated families. Targeted genetic testing was carried out in 16 families and 13 of them received a diagnosis.

Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI.

Background & Objectives: Mucopolysaccharidosis type VI (MPS VI) is a rare, autosomal recessive lysosomal storage disorder caused by deficient enzymatic activity of N-acetyl galactosamine-4-sulphatase resulting from mutations in the arylsulphatase B (ARSB) gene. The ARSB gene is located on chromosome 5q11-q13 and is composed of eight exons. More than hundred ARSB mutations have been reported so far, but the mutation spectrum of MPS VI in India is still unknown.

Neonatal diabetes mellitus due to a novel ABCC8 gene mutation mimicking an organic acidemia.

Neonatal diabetes mellitus and organic acidemias, may present with similar features like hyperglycemia, ketoacidosis and failure to thrive. A four-mo-old girl presented with diabetic ketoacidosis following a febrile respiratory illness during which high anion gap metabolic acidosis and hyperglycemia were detected. She also had hyperammonemia, which led to diagnostic uncertainty.

Are Indian parents of children with Down syndrome engaged in the blame game?

Objectives: To study blame ascription among parents of children with Down syndrome and to study its correlation with sociodemographic factors, parental perception of dysmorphisms and parents' knowledge about Down syndrome. This is a prospective, observational, non-interventional case control study.

Methods: Interview of biological parents of children with Down syndrome less than 12 y of age was taken.

Left ventricular failure due to a rare variant of congenital adrenal hyperplasia.

"Hypertensive" variant of congenital adrenal hyperplasia is rare. The authors describe an interesting case of a 6-y-old boy who presented with an acute respiratory illness and progressive breathlessness since 1 y. Genital hyperpigmentation was noticed since 2 y of age; the onset of pubarche and increasing penile size at 4 y.

Candida tropicalis endocarditis: Treatment in a resource-poor setting.

Fungal endocarditis (FE) is rare in children and does not usually occur in structurally normal hearts. The commonest causative agent is Candida albicans. We report a 5-year-old female child presenting with high-grade fever and cardiac failure.

Human immunodeficiency virus (HIV) infection in a child presenting as acute disseminated encephalomyelitis.

Acute disseminated encephalomyelitis is an extremely rare occurrence in human immunodeficiency virus (HIV) infection. We describe an 8-year-old male child who presented with weakness of both lower limbs for 10 days and focal convulsions for 2 days. The child had left, upper motor neuron facial palsy, lower limb hypotonia, and exaggerated deep tendon reflexes.

Extrapontine myelinolysis in a child with nephrotic syndrome.

Extrapontine myelinolysis is rare in children. We describe a 6-year-old girl with nephrotic syndrome who presented with symptomatic hyponatremia, and who developed acute quadriparesis with pseudobulbar palsy during rapid correction of the hyponatremia. Cranial magnetic resonance imaging demonstrated bilateral, symmetric basal ganglia lesions (extrapontine myelinolysis).

Anterior sacral pyocele with meningitis: a rare presentation of occult spinal dysraphism with congenital dermal sinus.

The authors describe an interesting case of a hitherto asymptomatic occult spinal defect with a congenital sacral dermal sinus which proved to be the entry point for bacterial meningitis in an otherwise healthy 9-year-old female child. The patient presented with fever and neck stiffness, and a dermal sinus in the lumbosacral region was identified on examination. Cerebrospinal fluid analysis confirmed bacterial meningitis and a spinal magnetic resonance imaging scan revealed a dermal sinus tract with an anterior spinal meningocele, caudal regression syndrome, and a tethered spinal cord.

Psychological consequences in pediatric intensive care unit survivors: the neglected outcome.

Objectives: To determine whether Pediatric Intensive Care Unit (PICU) hospitalization results in adverse psychological effects and to identify the contributory factors.

Setting: Level III PICU of a tertiary center.

Design: Prospective cohort study.

Wolman disease: diagnosis by leucocyte acid lipase estimation.

Wolman disease is a rare fatal autosomal recessive disorder caused by absence of acid lipase enzyme leading to accumulation of cholesterol ester. Hepatosplenomegaly is a constant feature and occurs as early as fourth day of life. Progressive mental deterioration may occur after few weeks of onset of symptoms.

Effect of deferiprone on urinary zinc excretion in multiply transfused children with thalassemia major.

A prospective multi-centric study was conducted to determine if iron-chelating agent deferiprone also chelates zinc. Twenty four-hour urinary zinc levels were compared in multiply transfused children with thalassemia major not receiving any chelation therapy (Group A, n = 28), those receiving deferiprone (Group B, n = 30) and age and sex-matched controls of subjects in Group B (Group C, n = 29) by a colorimetric method. The 24-hour mean urinary excretion of zinc was significantly higher in Group B than in the other two groups indicating that deferiprone chelates zinc.

Rabson-Mendenhall syndrome.

Rabson-Mendenhall syndrome is characterized by growth retardation, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, premature and dysplastic dentition, coarse facial features, paradoxical fasting hypoglycemia and post-prandial hyperglycemia, extreme hyperinsulinemia and pineal hyperplasia. We describe a six-month-old female child with physical features suggestive of the Rabson-Mendenhall syndrome. The child also had medullary nephrocalcinosis.

Incomplete monosymptomatic leptomeningeal angiomatosis.

Phakomatoses or neurocutaneous syndromes are an important cause of seizures in the pediatric age group. The Sturge-Weber syndrome may affect the eye, skin and brain at different times. The skin lesions need not always manifest.

Anticonvulsant hypersensitivity syndrome: lymphocyte toxicity assay for the confirmation of diagnosis and risk assessment.

Objective: To report a case of anticonvulsant hypersensitivity syndrome (AHS) precipitated by exposure to phenobarbital.

Case Summary: An 11-year-old girl receiving phenobarbital developed fever, exfoliative skin rash, mucous membrane lesions, alopecia, and hepatic inflammation. Investigations ruled out an infectious etiology; an adverse event following phenobarbital administration was considered.

Recurrent acute transverse myelopathy: association with antiphospholipid antibody syndrome.

A seven-year-old boy presented with a second episode of acute transverse myelopathy. The first episode had responded dramatically to methylprednisolone. The manifestations of the second episode did not respond to methylprednisolone or IVIG.

Congenital factor VII deficiency.

A 1(1/2)-month-old baby with seizures, lethargy and refusal of feeds was diagnosed to have intracranial hemorrhage due to factor VII deficiency. MRI also demonstrated the unusual presence of a hemorrhagic infarct. The case underscores the importance of carrying out neuroimaging and appropriate hematological studies even in the absence of obvious external bleeding.

Down syndrome: clinical profile from India.

Background: Our objective was to study demographic features, clinical features, and karyotype analyses of patients with Down syndrome (DS). Our study design was a retrospective analysis, while the study was conducted in the Genetic Clinic of a tertiary-care teaching hospital.

Methods: Retrospective analysis of cases referred to the Genetic Clinic was performed.

A newly recognized syndrome with double upper and lower lip, hypertelorism, eyelid ptosis, blepharophimosis, and third finger clinodactyly.

Congenital double lip is an uncommon developmental abnormality usually affecting the upper lip. We report a 21-year-old male with double upper and lower lip, hypertelorism, unilateral ptosis, blepharophimosis, and broad nose with broad nasal tip, highly arched palate, and bilateral third finger clinodactyly. The disorder differs from Ascher syndrome and appears to represent a newly recognized syndrome.

Kocher-Debre-Semelaigne syndrome: hypothyroidism with muscle pseudohypertrophy.

Kocher-Debre-Semelaigne syndrome is a rare association of muscular pseudohypertrophy and hypothyroidism in children. We report two cases of this syndrome in this communication. The first case was a seven-years-old female who presented with features of hypothyroidism and muscle pseudohypertrophy.

Congenital and inherited ophthalmologic abnormalities.

Objective: To identify genetic disorders associated with ophthalmologic abnormalities; type and frequency of various ophthalmologic abnormalities associated with selected genetic and inherited disorders; and devise a suitable classification for ophthalmologic abnormalities.

Methods: Pediatric cases referred with mental retardation, congenital malformations and suspected genetic and metabolic disorders were enrolled prospectively. Relevant clinical details (including an ophthalmologic examination) and investigations were recorded.

Neurological complications of rabies vaccines.

The rabies vaccines containing neural elements are used in some countries including India. We report three cases that presented with various neurological complications following the use of these vaccines. The presenting manifestations included those of encephalitis, radiculitis and acute inflammatory demyelinating polyradiculoneuropathy.