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Neuropediatrics 1988; 19(1): 52-55
DOI: 10.1055/s-2008-1052402
© Georg Thieme Verlag KG Stuttgart · New York

Atypical Form of Menkes Kinky Hair Disease with Mitochondrial NADH-CoQ Reductase Deficiency

M.  Inagaki1 , K.  Hashimoto1 , K.  Yoshino2 , K.  Ohtani3 , I.  Nonaka4 , M.  Arima4 , M.  Kobayashi5 , N.  Sugiyama5
  • 1Division of Child Neurology, Institute of Neurological Sciences, Tottori University School of Medicine, Yonago, Japan
  • 2Department of Pediatrics, National Sanatorium Nishi-Tottori Hospital, Tottori, Japan
  • 3Department of Pediatrics, Tottori Prefectural Central Hospital, Tottori, Japan
  • 4National Center of Neurology and Psychiatry, Tokyo, Japan
  • 5Department of Pediatrics, Nagoya City University Medical School, Nagoya, Japan
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Publication History

Publication Date:
19 May 2008 (online)

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Abstract

A male infant with an atypical form of Menkes kinky hair disease showed mitochondrial NADH-CoQ reductase (complex I) deficiency in a femoris muscle biopsy. His clinical features consisted of hypotonicity of the upper limbs, hyperreflexia of the lower extremities, abnormal hair and fine myoclonic movement of the hands.

The serum levels of copper and ceruloplasmin were just below normal range, and the copper concentration in fibroblastic cells was much increased (101.2 ng/mg of protein).

The occurrence of this case suggests that there may be a mild form of Menkes disease with a NADH-CoQ reductase deficiency or other mitochondrial enzyme defects.

Key words

Menkes disease, atypical form - NADH-CoQ reductase deficiency

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