Infantile Osteopetrosis With Neuroaxonal Dysplasia

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

OSTM1

Drugs

Allogeneic multi-virus specific T lymphocytes targeting BK virus, cytomegalovirus, human herpesvirus-6, Epstein Barr virus and adenovirus, Interferon gamma 1b ( ACTIMMUNE, IMUKIN ), haematopoietic stem cells and blood progenitors umbilical cord-derived expanded with (1R, 4R)-N1-(2-benzyl-7-(2-methyl-2H-tetrazol-5-yl)-9H-pyrimido[4,5-b]indol-4-yl)cyclohexane-1,4-diamine dihydrobromide dihydrate

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This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus.

Epidemiology

It has been described in a brother and a sister born to nonconsanguineous Caucasian parents.

Clinical description

The children died at the ages of 1 and 9 months, respectively. Several additional cases combining axonal dystrophy and osteopetrosis have been described.

Etiology

The etiology remains unclear.

Genetic counseling

Autosomal recessive inheritance has been suggested.