Problem

Neuronal ceroid lipofuscinosis

Other Names:
NCLs
Spielmeyer-Vogt-Sjogren-Batten disease
Batten's disease
Inherited metabolic storage diseases concerning proteins
Nature:
Childhood NCLs are autosomal recessive disorders; that is, they occur only when a child inherits two copies of the defective gene, one from each parent. Adult NCL may be inherited as an autosomal recessive (Kufs) or, less often, as an autosomal dominant (Parrys) disorder. In all cases, symptoms of neuronal ceroid lipofuscinosis (NCL) are linked to a buildup of substances called lipopigments in the body's tissues. Batten disease is the most common form of this group of disorders. They strike without warning, affecting vision and causing seizures or convulsions.
Background:
Batten disease is named after the British pediatrician who first described it in 1903.

Although Batten disease is usually regarded as the juvenile form of neuronal ceroid lipofuscinosis (NCL), it has now become the term to describe all forms of NCL. The basic cause, progression, and the outcome are the same. The forms of NCL are classified by age of onset but are all genetically different. The forms are infantile (Santavnori), late infantile (Jansky, Bielschowsky), juvenile (Batten, Spielmeyer, Sjogren), and adult type (Kuf, Parry).

Infantile NCL (Santavuori-Haltia disease) begins between about 6 months and 2 years of age and progresses rapidly. Affected children fail to thrive and have abnormally small heads (microcephaly). Also typical are short, sharp muscle contractions called myoclonic jerks. Initial signs of this disorder include delayed psychomotor development with progressive deterioration, other motor disorders, or seizures. The infantile form has the most rapid progression and children live into their mid childhood years.

Late Infantile NCL (Jansky-Bielschowsky disease) begins between ages 2 and 4. The typical early signs are loss of muscle coordination (ataxia) and seizures along with progressive mental deterioration. This form progresses rapidly and ends in death between ages 8 and 12.

Juvenile NCL (Batten Disease) begins between the ages of 5 and 8 years of age. The typical early signs are progressive vision loss, seizures, ataxia or clumsiness. This form progresses less rapidly and ends in death in the late teens or early 20s, although some may live into their 30s.

Adult NCL (Kufs Disease or Parry's Disease) generally begins before the age of 40, causes milder symptoms that progress slowly, and does not cause blindness. Although age of death is variable among affected individuals, this form does shorten life expectancy.

Incidence:
There are four main types of NCL, including two forms that begin earlier in childhood and a very rare form that strikes adults. The symptoms are similar but they become apparent at different ages and progress at different rates.
Aggravates:
Seizures
Convulsions
Problem Type:
G: Very specific problems
Date of last update
23.10.1999 – 00:00 CEST