Menkes' Kinky Hair Syndrome - medIND

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Menkes' Kinky Hair Syndrome
Sunil George, Sona Anna Matthai, M.M. Sosamma and T.U. Sukumaran
Institute of Child Health, Kottayam, Kerala, India
Fig 1.
Fig 3. Fig 4.
This one and a half-year-old boy presented with global
developmental delay and myoclonic seizures from 3½
months of age. Parents had also noticed hypopigmented
brittle hair from birth. He was the only child of non
consanguineous parents with history of birth asphyxia
and low birth-weight. On examination he was found to
be fair complexioned with hypopigmented sparse
twisted hair, pleigocephaly, global developmental delay,
hypothermia and cortical blindness. The child had callus
formation from fracture clavicle sustained earlier. He had
no head control with varying tone of all limbs, grade two
power and exaggerated reflexes. Laboratory
investigations: Serum copper (59 micrograms/dl) and
serum ceruloplasmin (10 mg/dl) were low, urine
neurometabolic screening was normal and EEG showed
hypsarrhythmia. MRI revealed severe cerebral and
cerebellar atrophy, hydrocephalus and multiple flow
voids in the basal regions due to elongated and
Indian Journal of Pediatrics, Volume 72—October, 2005 891
Fig 2.

tortuous vessels. Hair microscopy showed trichorrhexis
nodosa.
This child clearly has Menke syndrome. It is an Xlinked
disease due to an apparent defect in copper
absorption from the gut, possibly, resulting from an
inadequate transport mechanism. Deficiency of copper
affects the Copper containing enzymes and is
characterized by major motor seizures, progressive
neurologic deterioration, abnormal hair, hypothermia,
deformities of the skeleton, abnormally tortuous arteries
and early death. 1
Clinical manifestations include motor seizures, often
myoclonic or generalized tonic clonic, with early onset
within the first few months of life, most commonly in
the neonatal period. Abnormalities of EEG include
hypsarrhythmia and paroxysmal discharges.
Hypothermia may be prominent. Hair is coarse
,shortened and light coloured, and hair microscopy
shows periodic narrowing (monilethrix), twisting (pili
torti) and fragmentation ( trichorrhexis nodosa). Face is
rounded with a depressed nasal bridge. Motor
development is grossly retarded with poor head control
and hypotonia, along with severe intellectual
impairment. Blindness has also been seen in some
patients.
Serum copper and ceruloplasmin levels are low;
radiographic studies of skeletal system demonstrate
Sunil George et al
flaring of the ribs and metaphyseal spurring.
Arteriograms demonstrate tortuosity of cerebral vessels;
Neuroimaging often demonstrates cerebral atrophy, low
density cortical areas, enlarged tortuous vessels and subdural
collections. Treatment with copper-histidine
administered subcutaneously is effective, especially if
started in the neonatal period as it prevents neurological
deterioration. 2 But prognosis is poor and death occurs
by 2-3 years due to other complications.
Prenatal diagnosis is possible by chorion villus biopsy
and estimation of copper content using radioactive
copper uptake in fibroblasts. Molecular methods are also
available.
T.U. Sukumaran
Professor of Pediatrics,
Institute of Child Health (ICH),
Gandhinagar, Kottayam, Kerala.
E-mail-tusukumaran@hotmail.com
REFERENCES
1. Kenneth F S and Paul RD. Degenerative diseases primarily of
grey matter. Pediatric Neurology : Principles and Practice, Vol
II , 3 rd edn. Mosby 1999 : 833-835.
2. Michael VJ. Neurodegenerative disorders of childhood. In
Behrman et al, ed. Nelson Textbook of Pediatrics. 17 th edn.
Saunders 2004 : 2034.
892 Indian Journal of Pediatrics, Volume 72—October, 2005