Ovarian dysgenesis with balanced autosomal translocation.

Autosomal translocations are rare in the patients with ovarian dysgenesis. An 18-year-old female who presented with primary amenorrhoea had hypergonadotropic hypogonadism and streak ovaries with hypoplastic uterus. Karyotype analysis revealed a balanced autosomal translocation involving chromosomes 1 and 11. The probable role of autosomal translocations in ovarian dysgenesis has been discussed.

Krabbe disease--clinical profile.

OBJECTIVE: To study clinical features and investigations of children with Krabbe Disease (KD). DESIGN: Retrospective. SETTING: Genetic Clinic of a tertiary care teaching hospital. METHODS: Hospital records of patients with enzymatically confirmed KD were analyzed with respect to their clinical features and investigations including neuroimaging (CT-scan and/or MRI). Galactocerebrosidase (GALC) activity was estimated photometrically in the peripheral blood leukocytes. RESULTS: Nine children (age ranging from 2 1/2 months to 8 years) were studied, of which 5 had the classical infantile disease, 3 had late infantile form and one was diagnosed as juvenile KD. GALC levels in peripheral blood leukocytes were low or absent in all. Most of the children with infantile disease presented with neurodegeneration, seizures or fever. Optic atrophy was uncommon in our series (present only in a single case). Majority of the cases had elevated cerebrospinal fluid (CSF) protein levels and peripheral neuropathy on nerve conduction (NC) studies. Findings typical of KD were noted in 7 patients who underwent magnetic resonance imaging (MRI). The sole patient with juvenile disease presented with developmental delay and progressive spastic quadriparesis. CONCLUSION: Krabbe disease should be considered in the differential diagnosis of early infantile onset of neurodegeneration with seizures. Likewise, older children with progressive ataxia or spastic quadriparesis in whom the etiology remains obscure, must be investigated for Krabbe disease. MRI can be diagnostic in absence of availability of enzyme diagnosis.

Unusual hand malformations with cardiac defects--a variant of heart--hand syndrome IV.

Reported below is the association of unusual hand malformations and congenital cardiac anomalies, possibly a variant of Heart--Hand syndrome IV in a 10 year old male. In addition to these malformations, he also had genitourinary defects. The differential diagnosis of polydactyly with cardiac defects is discussed along with a review of relevant literature.

Neurofibromatosis-Noonan syndrome or LEOPARD Syndrome? A clinical dilemma.

Neurofibromatosis (NF), Noonan syndrome (NS), and LEOPARD syndrome are all autosomal dominant conditions, each being a distinct clinical entity by itself. Rarely, one encounters cases with features of NF and NS and is termed as the 'Neurofibromatosis-Noonan syndrome' (NF-NS). The authors report a clinical dilemma with major clinical features of the NF-NS syndrome and LEOPARD syndrome co-existing in the same patient. Also, features of Noonan syndrome and LEOPARD syndrome are compared with the case reported.

Superior sagittal sinus thrombosis: a rare complication of nephrotic syndrome.

A two and half year-old-male child, known case of steroid responsive nephrotic syndrome presented with fever and vomiting of acute onset. He was diagnosed to have superior sagittal sinus thrombosis on a contrast computerised tomographic scan of brain. Recovery was complete without anticoagulant therapy. Superior sagittal sinus thrombosis is an extremely rare complication of nephrotic syndrome.

Benzathine penicillin induced immune haemolytic anaemia.

Penicillin-induced immune haemolytic anaemia is very rare. A ten year-old-female with rheumatic mitral stenosis on benzathine penicillin prophylaxis presented with features of haemolytic anaemia and investigations supported the diagnosis of immune haemolytic anaemia. Patient responded to discontinuation of the drug and therapy with oral prednisolone. This is first such case reported from India.

Familial glucocorticoid deficiency, alacrimia and achalasia--Allgrove syndrome.

We report three brothers with Allgrove syndrome. All three had evidence of adrenal insufficiency and deficient tear production, though neither of them had achalasia, the third component of the disorder at the time of this report. Neurological abnormalities were present in the index case. The younger siblings were neurologically normal. The familial association of achalasia, alacrimia and adrenal insufficiency, rather than being fortuitous, is a distinct clinical entity.

Cri-du-chat syndrome: clinical profile and prenatal diagnosis.

Prenatal diagnosis of cri-du-chat syndrome is described in 2 pregnancies. In Case 1, the mother was a balanced translocation carrier and had 2 previously affected off springs. Prenatal diagnosis by chorion villus sampling and cordocentesis was successful in diagnosing an affected conceptus and the pregnancy was electively terminated. Case 2 was referred for nonimmune foetal hydrops and cordocentesis revealed deletion 5p. This second case was noteworthy for the fact that deletion 5p has not been reported to cause foetal hydrops.

Study Of Malformations And Down Syndrome In India (SOMDI) : Bombay Region.

As a part of the multicentric BRNS project on the incidence of congenital malformations and Down syndrome, Mumbai centre examined a total of 42,304 babies delievered at K.E.M. Hospital and Nowrosjee Wadia Maternity Hospital (NWMH). Among the major malformations recorded 5.58 were of musculoskeletal system 5.22 of gastrointestinal system, 4.89 of gastrointestinal system, 2.88 of urinogenital system, 1.82 cardiovascular system and other less than 1 per 1000 birth. Among the minor varieties of dismorphism hand and feet showed maximum frequency followed by ears and eyes. Details of these malformations with reference to clinical features; chromosmal analysis and demographic data are discussed.

Clinical and enzyme studies in Gaucher disease.

OBJECTIVE: To study the clinical and biochemical spectrum of Gaucher disease. DESIGN: Assay of beta glucosidase enzyme in leucocytes in patients with splenomegaly, and in chorionic villi for prenatal diagnosis. SETTING: Hospital-based. SUBJECTS: Of 13 cases of Gaucher disease, aged 1-6 years, 9 were identified at Delhi and 4 at Bombay. RESULTS: The enzyme beta-glucosidase was 0.65 nmol/h/mg of protein or less in all the cases in Delhi, and 2.5 nmol/h/mg of protein or less in Bombay. All cases except one belonged to type 1 (hepatosplenomegaly), while one case was of type 2 (neuronopathic). Prenatal diagnosis was carried out in one family and the fetus was found to be affected. CONCLUSION: In children with hepatosplenomegaly and increased acid phosphatase, assay of beta-glucosidase enzyme confirms the diagnosis of Gaucher disease. Diagnosis of the disease is important because enzyme replacement therapy is available and prenatal diagnosis is possible.

Cri du chat syndrome.

Three cases of cri du chat syndrome with varying ages of presentation are compared and contrasted to highlight the clinical features and evolution of the phenotype with time.

Mucolipidoses--II: A report of three cases.

Mucolipidoses II is a rare lysosomal storage disorder with autosomal recessive inheritance. There cases with typical clinical features in early infancy like coarse facial features, severe psychomotor retardation and joint contractures are being reported. All the cases had no mucopolysacchariduria. These cases had normal values of lysosomal enzymes in leucocytes but markedly increased values in serum thus confirming mucolipidoses II. Despite the fact that there is no specific treatment, genetic counselling and prenatal diagnosis is indicated.