NEUROENDOCRINOLOGY
LETTERS
including
Psychoneuroimmunology, Neuropsychopharmacology,
Reproductive Medicine, Chronobiology
and Human Ethology
ISSN 0172–780X
A
casuistic rationale for the treatment of spastic and myocloni
in a childhood neurodegenerative disease:
Neuronal ceroid lipofuscinosis of the type Jansky-Bielschowsky Dr. med. Ruediger Lorenz, Brunnenstr.
54 D-34537 Bad Wildungen, GERMANY
Submitted:
October 11, 2002; Accepted: October 26, 2002
The
casuistic of a child suffering from late infantile neuronal
ceroid lipofuscinosis (NCL) of the type Jansky-Bielschowsky
aims to provide a description of possible therapeutic options
for the severe spastic and the debilitating myocloni that
occur within the context of this disorder. Moreover, it also
should include a discussion of potential indications for the
application of delta 9-Tetrahydrocannabinol (THC) (Dronabinol,
Marinol) in childhood.
NCL
The
four major variants of NCL (types Santavuori, Jansky-Bielschowsky,
Spielmeyer-Vogt, and Kufs) are characterized by excessive
ceroid and lipofuscin lysosomal storage in both neurons and
astroglia as well as in muscle cells, the thyroid gland, pancreas,
skin, conjuctiva, and lymphocytes. Whereas all four varieties
are inherited in an autosomal recessive manner, they can be
differentiated with respect to the defective gene involved,
the material stored at the cellular level, their light microscopic
findings, clinic, and onset of illness.
The late infantile NCL is a lysosomal storage disease that
can be traced to a defect in the formation of the lysosomal
pepstatin-insensitive carboxypeptidase, which results in storage
of the mitochondrial ATP-synthase subunit C, a component of
the internal mitochondrion membrane [1]. Storage occurs in
the form of wafer-thin layers and occasionally takes on a
fingerprint-like configuration. Magnetic resonance imaging
reveals a generalized brain atrophy that is especially marked
in the cerebellum. In PET, a rapidly progressive degeneration
of the brain tissue, accompanied by cortical and subcortical
(thalamic) hypometabolismus, can be detected [2]. Clinically,
the patients present with epileptic seizures as well as myocloni
of a non-epileptic genesis originating for the most part in
the cortex [3], which are capable of culminating in clonic-tonic
seizures [4], loss of visual acuity and speech, ataxia, and
spastic. Death occurs in late childhood.
