Successful haematopoietic stem cell transplantation for osteopetrosis due to TCRIG1 mutation.

摘要

A 5-month-old infant of consanguineous parents (first cousins) presented with acute respiratory illness, hepatosplenomegaly, roving nystagmus and vision impairment. Pale optic nerves with little evidence of normal function (by visual evoked responses), good retinal responses and no features of retinal dystrophy (by electroretinography), loss of corpus callosum and atrophy of anterior visual pathway (by MRI) out of proportion for the optic nerve canal narrowing (by CT) were suggestive of established irreversible optic nerve atrophy. He had no clinical features suggesting neurodegeneration. Anaemia, thrombocytopaenia, 'osteoclast rich' bone marrow aspirate and increased bone density on chest radiography (figure 1A) pointed to a diagnosis of juvenile 'malignant' (autosomal recessive) osteopetrosis (JMOP), subsequently confirmed due to TCIRG1 mutation (5321_2insG (C324fs)).