A very rare autosomal recessive disease characterized
by accumulation of glycosphingolipids in many tissues, which lead to
neurological and ophthalmic lesions and to frequent, severe, pulmonary
Kanzaki Disease (Schindler Disease adult form).
Very rare (10 cases reported).
Caused by mutation of gene α-N-acetylgalactosaminidase (α-GalNAc) located on 22q11. In
individuals with Schindler disease, deficiency of the α-NAGA enzyme
leads to an abnormal accumulation of certain complex compounds
(glycosphingolipids) in many tissues of the body. It is classified among
oligosaccharidoses or glycoproteinoses.
Clinical evocation is difficult because the disorder is
clinically heterogeneous. The infantile form of Schindler Disease, in which onset
occurs by the end of the first year, is characterized by progressive hypotonia, extrapyramidal signs, and
rapid psychomotor regression (as a result of abnormal lipid storage in nervous
system). Death occurs within the first decade. In the adult form, angiokeratomas
(abnormal lipid storage in the vessels) and moderate mental retardation are
observed. Certitude diagnosis is biological: characteristic profile on the
chromatography of urinary oligosaccharides, confirmed by the measurement of
the α-N-acetylgalactosaminidase activity in leukocytes, fibroblasts,
amniocytes, or trophoblasts.
In the infantile form there is increasing neurological
impairment, with progressive hypotonia, spasticity, no voluntary movements,
symmetric hyperreflexia, profound psychomotor retardation, and
seizures by the age of 3 to 4 years. Other clinical features include ophthalmologic
manifestations: bilateral optic atrophy, cortical blindness, nystagmus, and
strabismus. Severe respiratory infections occur.
Evaluate neurological status
(clinical, CT/MRI, EEG, somatosensory evoked potentials) and muscular
atrophy caused by nerve denervation (clinical). Assess respiratory function with
Intraoperative positioning must be done carefully
because of the severe spasticity. Patients affected with active pulmonary infections must
be postponed when possible. The presence of residual respiratory tract infection should not
be disregarded because the perioperative incidence of complications is very high.
Avoid succinylcholine because of the association
of nerve demyclination and amyotrophic changes. The risk of hyperkalemia and sudden cardiac
arrest is significant. Epileptic treatment has to be
given the day of anesthesia. Consider anesthetic and antiepileptic drugs interactions.
Seitelberger Syndrome: A rare
inherited disorder characterized by the progressive degeneration of the central nervous
system. Individuals affected with this disorder develop normally within the first
6 months to 2 years of age, at which time their psychomotor development slows and
individuals begin to lose previously acquired skills. Clinically, this condition is
characterized by severe nystagmus and strabismus, optic nerve atrophy and loss of vision,
hypotonia, muscle spasticity, and/or deafness. Later on, children may exhibit dementia
and neurological decerebration. It is inherited as an autosomal recessive genetic
Hallervorden-Spatz Disease: A rare
neurological movement disorder characterized by the progressive degeneration
of the central nervous system and abnormal accumulation of iron pigment in certain
areas of the brain. It typically develops ...