Haltia-Santavuori Syndrome

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 thioesterase 1.

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 examinations.

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 motor impairment, and, particularly, progressive visual impairment.

Kufs Disease (Neuronal Ceroid Lipofuscinoses): Characterized by an onset during adulthood (third or fourth decade). The clinical symptomatology includes gradual intellectual deterioration, seizure episodes, progressive motor impairment, and progressive visual impairment.

Alpers Disease: Characterized by an onset of symptoms during early childhood. The clinical features include progressive mental deterioration and motor impairment, intractable epilepsy, and impaired liver function. Most of the neurologic symptoms disappear because of degeneration of nerve cells of the brain.

Rett Syndrome: Neurologic disorder that occurs only in females. Affected children appear to develop normally until approximately 6 to 18 months of age, at which time their psychomotor development stops and signs of developmental regression occur. Although the head circumference is normal at birth, infants show microcephaly by 1 year of age. Stereotypical hand movements, hyperventilation, retractable seizures, and loss of psychomotor development have been observed.