Griscelli syndrome type 2 (GS2) is a rare autosomal recessive disease caused by mutations in the RAB27A gene. It is characterized by cutaneous hypopigmentation, immunodeficiency, and hemophagocytic lymphohistiocytosis. We describe 2 brothers who had GS2 with clinically diverse manifestations. The elder brother presented with a purely neurological picture, whereas the younger one presented with fever, pancytopenia, hepatosplenomegaly, and erythema nodosum. Considering that cutaneous hypopigmentation was a common feature between the brothers, genetic analysis for Griscelli syndrome was performed. As the elder sibling had died, mutation analysis was only performed on the younger sibling, which revealed a novel homozygous mutation in the RAB27A gene on chromosome 15 showing a single-base substitution (c.136T>A p.F46I). Both parents were heterozygous for the same mutation. This confirmed the diagnosis of GS2 in the accelerated phase in both siblings. The atypical features of GS2 in these cases are a novel mutation, isolated neurological involvement in one sibling, association with erythema nodosum, and 2 distinct clinical presentations in siblings with the same genetic mutation.
The prevalence of CD among FDR is 9 fold higher than the general population. High prevalence of CD in presence of anemia and short stature in seropositive FDR in index study indicates need of targeted screening of this subgroup for the presence of CD.CD is unlikely in the absence of HLADQ2/DQ8.
Congenital rickets is a very rare entity in the spectrum of metabolic bone disease in children. The authors report an as yet unreported case of congenital rickets presenting with respiratory distress at birth. The radiographs of long bones and wrist showed generalized osteopenia with cupping and fraying of epiphyseal ends in the second week of life. The patient was managed with very high doses of vitamin D which led to clinico-radiological and biochemical improvement. More than being interesting for its extreme rarity, this report assumes importance as it brings forth the possibility of congenital rickets being a differential diagnosis for a newborn with respiratory distress.
Cold agglutinin syndrome (CAS) secondary to infection is rare, usually presenting with anaemia and minor skin changes. A 12-year-old girl with secondary CAS associated with extensive cutaneous necrosis is reported. She presented with fever and multiple necrotic lesions over both cheeks, the tip of nose, ear margins, hands and buttocks, along with pallor, hepatospenomegaly, acrocyanosis and gangrene of the fifth digit of the right hand. She had anaemia, unconjugated hyperbilirubinaemia and a positive direct antiglobulin test owing to cold agglutinins of the IgM type with anti-i specificity and titres of 1:512 at 4°C. Results of bone marrow examination were normal and cryoglobulins were negative. Cold antibodies released even during a brief, self-limited febrile illness can cause widespread cutaneous gangrene. We believe this is the first report in the paediatric age group.
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