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
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.
