Ramesh C. Parmar

Thyroiditis as a presenting feature of mumps.

Thyroiditis complicating mumps is rare and occurs 1 week after the parotitis. A 9-year-old boy with a history of contact with a case of mumps presented with thyroid swelling. Thyroid scan showed a diffusely reduced uptake. The aspiration cytology showed lymphocytic thyroiditis. Thyroid function tests were normal and antithyroid antibodies were absent. Parotitis occurred 12 days after the onset of thyroiditis.

Ring chromosome 12 with variable phenotypic features: Clinical report and review of the literature

A ring chromosome 12 (p13; q24.33) was observed in all cells analyzed from peripheral blood lymphocytes of a 15‐year‐old female referred for academic difficulties and growth delay. In addition to clinical manifestations generally observed with ring chromosome 12 such as growth retardation, mental deficiency, microcephaly, the patient had bilateral pseudocamptodactyly of little fingers, mild hirsutism, exaggerated lumbar lordosis, and ostium secundum atrial septal defect (ASD). The clinical features of reported cases are analyzed. The only consistent features were growth retardation and mental deficiency. Breakpoint in all the cases has been at the telomeric region with minimal deletion of chromosomal material. An account of complex changes at mitosis and meiosis in ring chromosome has been given. Examination of 200 metaphases demonstrated 2% cell line was showing 45,XX, ‐12. Serum lactate dehydrogenase (LDH) level was normal ruling out overlapping monosomy 12 syndrome.

Trisomy 21 with XYY

A case of double aneuploidy involving chromosome 21 and Y is reported in an eight-month-old infant with developmental delay and failure to thrive. Patient had all classical phenotypical features of trisomy 21 except, absence of epicanthal folds. The diagnosis was confirmed by cytogenetic study performed on peripheral blood leucocyte culture using G-banding. Literature review revealed only 17 cases of XYY and trisomy 21 reported so far. No such case is reported in Indian literature. Relevant literature is reviwed and possible effects of trisomy 21 on XYY and that of XYY on trisomy 21 has been discussed. A routine chromosomal study even in patient with classical features of Down syndrome has been advocated. Interestingly, our patient also had left to right shunts at atrial and ductal level and tricuspid regurgitation. Given the rarity of the disorder and scanty published data the incidence, phenotype and recurrence risk are difficult to establish.

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. Hypothesis for increased propensity for intra-cranial hemorrhage is discussed.

Neonatal Bartter syndrome.

A case of neonatal Bartter syndrome is reported. The baby born pre-term following a pregnancy complicated by polyhydramnios, presented at 7 months of age with failure to thrive, gastroenteritis and facial dysmorphisms. An unusual feature was the absence of the classical biochemical abnormality of hypochloremic alkalosis early in the course of the disease. Metabolic acidosis was the initial manifestation at 5 weeks of age. Awareness of this presentation is important to avoid delay in diagnosis and treatment.

Measles encephalitis: a report of two cases with variable manifestations.

Measles has always been considered as a disease associated with significant morbidity and mortality in children of the developing world. The high load of illness has been linked to infectious complications and malnutrition. The success of the immunization program has led to a decrease in the incidence of measles but of late, there have been reports of the program degrading, at least from some parts of the developing world.1 This is a concerning issue. Encephalomyelitis and encephalitis are two of the most devastating complications following measles. The latter is rarer than the first. Encephalitis usually occurs in children with measles modified by gamma globulin or occasionally in measles modified by live attenuated measles vaccine.2 Two cases of measles encephalitis are presented here that have occurred without modifying factors with unique atypical clinical and imaging manifestations, which have not been reported previously.