Malignant infantile osteopetrosis is a rare, fatal autosomal recessive disorder due to abnormal osteoclast activity. We report a 1-year-old infant, born to consanguineously married couple, who presented to our ER with acute respiratory distress and bicytopenia. He had tender hepatomegaly, splenomegaly, failure to thrive and features of rickets. He was evaluated previously for possible hydrocephalus secondary to his abnormal shape of head with proptosis, MRI revealed a subarachnoid cyst, but possibility of osteopetrosis was missed. Skeletal radiographs done later detected dense, sclerotic bone with sandwich vertebra, provided a delayed diagnosis of MIOP. Rickets, a paradoxical association, was also seen in our case, with low serum calcium and vitamin D3 levels. He succumbed due to severe bronchopneumonia with septic shock. Early diagnosis and timely hematopoietic stem cell transplant are the only curative approach for MIOP, which is otherwise fatal.
Bell’s palsy, an acute onset, acquired, isolated peripheral facial palsy, usually follows a viral illness, is common disorder post infancy to adolescence. It has a favourable prognosis with spontaneous resolution, or with use of oral corticosteroids. Its presentation in early infancy is very unusual, as in our case report of 3 month old infant with an ovoid mass lesion in parotid, which disappeared after therapy with corticosteroids with no residual deficit.
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