Neurodegenerative disorder caused by cricoid
lipofuscinosis and characterized by onset at 6 to 18 months of age with rapid
psychomotor deterioration, hypotonia, microcephaly, blindness, loss of
speech, seizures, and ataxia.
Acute Infantile Neuronal Ceroid-Lipofuscinosis; CLN Type
I; Hagberg-Santavuori Disease; Infantile Finnish Type of Neuronal
Ceroid-Lipofuscinosis; Infantile Neuronal Ceroid-Lipofuscinosis (INCL);
Neuronal Ceroid Lipofuscinosis Type I (early infantile); Santavuori-Haltia
Disease; Polyunsaturated Fatty Acid Lipidosis.
Inherited neurometabolic disorder characterized by abnormal
storage of the autofluorescent proteolipopigments in neuronal and other
structures as a consequence of low or absent activity of palmitoyl-protein
Average incidence of all lipofuscinoses is estimated at
1.5:100,000 live births. Haltia-Santavuori syndrome is one of the least
frequent and affects mainly Finnish people.
Autosomal recessive. Disorder caused by a
defective gene (CLN1) coding for the palmitoyl-protein thioesterase, which is
mapped to chromosome 1p32.
Palmitoyl-protein thioesterase is a small
glycoprotein that removes palmitate groups from cysteine residues in
lipid-modified proteins. It is thought to be involved in the catabolism of
lipid-modified proteins and is involved in neuronal maturation processes.
Deposition of lipofuscin in neural perikaryon,
hepatocytes, heart muscle, retina, conjunctiva, skin, and lymphocytes.
Haltia-Santavuori syndrome is the infantile form
of neuronal ceroid lipofuscinosis, which becomes clinically apparent between
6 and 18 months of age and presents as a rapidly progressive mental and
psychomotor deterioration with hypotonia, microcephaly, convulsive
disorders, blindness, and ataxia.
Carefully evaluate neurologic status
and seizure disorders [electroencephalography (EEG) recommended if not yet performed]. Consider
visual and somatosensory evoked potentials and electroretinogram to identify
eye conditions. The presence of abnormal dark retinal patches are common at eye
Not reported. Same anesthetic management as described for
other neuronal ceroid lipofuscinoses.
Antiepileptic drugs should be
continued until day of surgery. Consider interaction between antiepileptic
drugs and anesthesia. Cystagon might be a potential therapy for the disease.
Jansky-Bielschowsky Disease (Neuronal Ceroid Lipofuscinoses):
Late infantile form of neuronal ceroid lipofuscinosis (NCF). It has an onset
between 2 and 4 years of age. Until that time, children appear normal or may
exhibit slight delays in psychomotor development. Clinical features include
seizure episodes characterized by sudden breaks in action or thought,
twitching of certain facial muscles, and petit mal seizures and/or grand mal
seizures. Myoclonic seizures, ataxia, muscle hypotonia, gradual intellectual
deterioration, and progressive blindness may be present. A variant has been
identified in individuals of Finnish descent in whom the symptoms tend to
appear later, at approximately 5 to 7 years of age and progress more slowly.
It is inherited as autosomal recessive traits.
Vogt-Spielmeyer Disease (Neuronal Ceroid Lipofuscinoses):
Characterized by symptoms similar to the other two forms (infantile and late
infantile forms) but with an onset later in life, at approximately 5 to 13
years of age. The clinical manifestations include gradual intellectual
deterioration, seizure episodes, progressive ...