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A novel neurological disorder with progressive CNS calcification, deafness/ renal tubular acidosis, and microcytic anemia
Author(s) -
Yoshimara Masaki,
Hara Toshiro,
Maegaki Yoshihiro,
Koeda Talshyn,
Okubo Kenshi,
Humasaki Naotaka,
Sly William S.,
Takeshila Kenzo
Publication year - 1997
Publication title -
developmental medicine and child neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.658
H-Index - 143
eISSN - 1469-8749
pISSN - 0012-1622
DOI - 10.1111/j.1469-8749.1997.tb07410.x
Subject(s) - medicine , renal tubular acidosis , distal renal tubular acidosis , anemia , tubulopathy , spinal cord , endocrinology , calcification , psychomotor retardation , kidney , acidosis , pathology , alternative medicine , psychiatry
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 + /HCO 3 ‐ production or transport.