Central nervous system calcification-deafness-tubular acidosis-anemia syndrome

Also known as: Yoshimura-Takeshita syndrome

Definition

Orphanet

This syndrome is characterised by progressive calcification of the brain and spinal cord, growth retardation, psychomotor anomalies, deafness and anaemia. Renal tubular acidosis was found in one patient. To date, this syndrome has been described in only two patients from one family.

Go To Source: Orphanet

Symptoms

Medical Term Other Names Description
Anemia Decreased hemoglobin, Anaemia A reduction in erythrocytes volume or hemoglobin concentration.
Acidosis acidemia Abnormal acid accumulation or depletion of base.
Growth delay Growth deficiency, Delayed growth, Growth retardation, Growth failure, Retarded growth, Very poor growth [more] A deficiency or slowing down of growth pre- and postnatally.
Hearing impairment Congenital deafness, Hypoacusis, Deafness, Hearing defect, Hearing loss, Congenital hearing loss [more] A decreased magnitude of the sensory perception of sound.
Renal tubular acidosis Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis.

Other Classifiers and IDs