A novel neurological disorder with progressive CNS calcification, deafness, renal tubular acidosis, and microcytic anemia.

Abstract:

:Progressive calcification of the brain and the spinal cord at early infantile onset was observed in two siblings. They showed growth failure, psychomotor deterioration, deafness, vestibular dysfunction, microcytic hypochromic anemia, abnormal ratios of lymphocyte subpopulations, and slightly decreased bicarbonate on blood gas analysis. Distal renal tubular acidosis was demonstrated in one of them. Carbonic anhydrase II activity was normal. This new hereditary disease might have a defect in a molecule that is present in brain, spinal cord, kidney and hematocytes and is involved in H+/HCO3- production or transport.

journal_name

Dev Med Child Neurol

authors

Yoshimura M,Hara T,Maegaki Y,Koeda T,Okubo K,Hamasaki N,Sly WS,Takeshita K

doi

10.1111/j.1469-8749.1997.tb07410.x

subject

Has Abstract

pub_date

1997-03-01 00:00:00

pages

198-201

issue

3

eissn

0012-1622

issn

1469-8749

journal_volume

39

pub_type

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