Infantile spasms associated with proximal duplication of chromosome 15q

We describe a case of infantile spasms associated with a chromosome abnormality (supernumerary inverted duplication of chromosome 15 [47,XX,+inv dup(15)]). The patient was nondysmorphic and presented with mild hypotonia and delay in acquisition of gross motor milestones before the diagnosis of seizu...

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Bibliographic Details
Published in:Pediatric neurology 1996-09, Vol.15 (2), p.163-165
Main Authors: Bingham, Peter M., Spinner, Nancy B., Sovinsky, Lorraine, Zackai, Elaine H., Chance, Phillip F.
Format: Article
Language:English
Subjects:
Adrenocorticotropic Hormone - therapeutic use
Biological and medical sciences
Chromosome Aberrations - genetics
Chromosome Disorders
Chromosomes, Human, Pair 15
Electroencephalography - drug effects
Female
Follow-Up Studies
Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy
Humans
Infant
Infant, Newborn
Karyotyping
Medical sciences
Nervous system (semeiology, syndromes)
Neurology
Phenotype
Spasms, Infantile - diagnosis
Spasms, Infantile - drug therapy
Spasms, Infantile - genetics
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Summary:We describe a case of infantile spasms associated with a chromosome abnormality (supernumerary inverted duplication of chromosome 15 [47,XX,+inv dup(15)]). The patient was nondysmorphic and presented with mild hypotonia and delay in acquisition of gross motor milestones before the diagnosis of seizures at age 7 months. Additional features included unilateral sensorineural deafness and torticollis. Molecular cytogenetic studies confirmed that the patient has a large inv dup(15). Inv dup(15) chromosomes are variable with respect to the size and genetic composition of the chromosome and in their phenotypic effects. Patients with small inv dup(15s) may have no phenotypic abnormalities, whereas patients with large inv dup(15s) may have multiple abnormalities. ACTH therapy resulted in prompt remission of seizures and resolution of EEG abnormalities. This is the second report of a patient with IS and a supernumerary inv dup(15). Several genes code for neurotransmitter receptor subunits located in the duplicated region of chromosome 15, and abnormal dosage of these genes may be involved in the genesis of seizure activity in carriers of the inv dup(15). Chromosome analysis may lead to a specific diagnosis in infants with unexplained infantile spasms.
ISSN:0887-8994
1873-5150
DOI:10.1016/0887-8994(96)00119-1