Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency
2007; Lippincott Williams & Wilkins; Volume: 68; Issue: 16 Linguagem: Inglês
10.1212/01.wnl.0000259537.54082.6d
ISSN1526-632X
AutoresVincenzo Leuzzi, Maria Lucia Di Sabato, Federica Deodato, Charlene F. Rizzo, Sara Boenzi, Claudia Carducci, Patrizia Malaspina, C. Liberanome, Carlo Dionisi‐Vici,
Tópico(s)Neuroscience and Neuropharmacology Research
ResumoSuccinic semialdehyde dehydrogenase (SSADH; E.C. 1.2.1.24)deficiency (MIM#271980) is a rare defect of the gammaaminobutyric acid (GABA) catabolic pathway, resulting in 4-hydroxybutyric acid (GHB) accumulation. 1 We report the occurrence of an unusual paroxysmal movement disorder in two affected siblings born of healthy nonconsanguineous Italian parents.Case 1.This 18-year-old boy presented during childhood with autism, motor stereotypies (trunk swinging), hyperactivity, clumsiness, and hypotonia.Generalized epilepsy manifested at age 7 years, and sleep disorder (compulsive limb movements) manifested at age 10 years.Starting from age 15 years, he had a transient discomfort in the lower limbs while walking.On examination at age 16 years, he presented severe mental retardation, dysarthria, motor stereotypies (chaotic gesticulation, trunk swinging), mild dystonic postures of upper limbs, and paroxysmal exercise-induced dystonia (PED).PED emerged after approximately 100 steps as large amplitude abductor movements of the legs, gait freezing, frightful expression, and occasionally, falling (video E-1 on the Neurology Web site at www.neurology.org); he was able to walk again after resting 5 to 6 minutes.Vigabatrin (30 mg/kg/day) selectively, but partially, improved PED (he recovered the ability to walk for approximately 15 minutes) (video E-2), whereas it did not influence epilepsy and the language disorder.Case 2. This 13-year-old brother of Case 1 had multifocal seizures, psychomotor delay, and hypotonia during the first months of life.Obsessive-compulsive disorder (OCD) was diagnosed when he was 6 years old.A gait abnormality was noticed at age 11 years.On examination at age 12 years, he presented macrosomia (height and weight Ͼ 97%, head circumference approximately 70%), mammary hyperplasia, extra nipple on the right, hypertelorism, thoracolumbar scoliosis, myopia, striae cutis distensae (on trunk and thigh), and hyperchromic skin spots.He was moderately mentally retarded (Wechsler Intelligence Scale for Children-Revised IQ 48) and showed OCD, hand mannerisms, motor and vocal tics, poor gross-motor skills and clumsy gait,
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