Scholz-Bielschowsky-Henneberg disease

Metachromatic leukodystrophy. A collective term for a possibly rather heterogeneous group of fatal diseases with dystrophy of the white matter of the brain. This error of metabolism occurs in several forms: congenital, late infantile, adolescent, and adult (with and without arylsulphatase A deficiency). It is caused by a deficiency of the enzyme aryl sulfatase. A metachromatic material is deposited in the brain, peripheral nerves, liver, kidney, and frequently the urine. This material, sulfated lipids, would normally be degraded to cerebrosides. The course is characterised by paralysis, blindness, and severe mental retardation.

While the Pelizaeus-Merzbacher form of leukoencephalopathy is transmitted as an X-linked, recessive trait, the metachromatic leukodystrophies are autosomal recessive. However, a family described by Scholz had a possible X-linked recessive leukodystrophy.

The clinical features depend on age of onset. The most common type is late infantile metachromatic leukodystrophy, commonly known as Greenfield syndrome. This variant is characterized by normal infancy followed by locomotive disorders between the ages of 12 and 18 months. There is difficulty in walking, hypotonia, weakness, and loss of reflexes may lead on to nystagmus and cerebellar signs, dementia and tonic seizures and eventually paralysis.

The juvenile form starts in the teens with aphasia, progressive deafness, blindness, dementia and paralysis.

Adult metachromatic leukodystrophy may present with psychiatric features and presenile dementia. This form is also known as van Bogaert-Nyssen-Pfeiffer syndrome.

• W. Scholz:
  Klinische, pathologisch-anatomische und erbbiologische Untersuchungen bei familiärer, diffuser Hirnsklerose im Kindesalter (Ein Beitrag zur Lehre von den Heredodegenerationen).
  Zeitschrift für Neurologie, Berlin, 1925, 99: 651-717.
• M. Bielschowsky. R. Henneberg:
  Über familiäre diffuse Sklerose (Leukodystrophia cerebri progressiva hereditaria).
  Journal für Psychologie und Neurologie, Leipzig, 1928, 36: 131-181.
• J. G. A. Greenfield:
  A form of progressive cerebral sclerosis in infants associated with primary degeneration of the interfascicular glia.
  Journal of Neurology and Psychopathology, London, 1933, 13: 289-302.
• L. van Bogaert, R. Nyssen:
  Le type tardif de la leucodystrophie progressive familiale.
  Revue neurologique, Paris, 1936, 65: 21-45.
• J. Pfeiffer:
  Über die metachromatischen Leukodystrophien (Typ Scholz).
  Arch Psychother, Berlin, 1959, 199: 386-416.