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The XXXXY syndrome: a new case with talamic lesion.

A group of chromosomal disorders is described as Klinefelter syndrome in which there is at least one extra X chromosome added to a normal male karyotype, 46,XY. The chromatin-positive males composed of several X-aneuploidy variants: 47,XXY, 48,XXYY, 46,XY/47,XXY, 48,XXXY, and 49,XXXXY 49,XXXXY syndromes were delineated as a separate form because of distinct clinical features. A frequency of 1 in 85,000 births has been noted. Postzygotic nondisjunction during both meiosis I and meiosis II appears to cause the XXXXY state (2). The all four X-chromosomes are of maternal origin and are acquired though nondisjunction in maternal gametogenesis (1). The "classical triad" of 49,XXXXY syndrome consists of mental retardation with severe learning difficulties, skeletal malformations including radioulnar synostosis and hypergonadothrophic hypogonadism (6). Dysmorphic appearance and congenital heart disease are also seen in 49,XXXXY syndrome (5).A 7 'A year old boy was referred because of seizures and mental retardation. In the first month of life, flexion contractures were noted on his arms and legs. At the time of entry his weight was 20.7 kg (-1.33 SDS), length 117 cm (-0.97 SDS) and head circumference 47 cm (-3.69 SDS). The other physical examination findings including craniofacial anomalies and skeletal anomalies are shown in figure 1. He could not open his arms totally because of junctional deformation of bones. He had hypogonadism with micropenis and hypoplastic scrotum with operated cryptorchid testes. At the age VA years he developed a generalized tonic clonic seizure during a febrile period. His EEG showed spike and slow wave complexes in the left hemisphere. The patient was neurologically abnormal and had retarded development. Magnetic resonance imaging of the head confirmed the presence of white matter changes including demyelinated/dismyelinated areas on supratentorial brain parenchyma and periventricular regions. In addition brain MRI studies showed an amorphous signal abnormality in the bilateral talamic region and has never been reported (Fig. 2). His motor skills were delayed and movements slow. X-ray studies of both upper extremities reveal radio-ulnar synostosis. Cytogenetic study by GTG banding of peripheral lymphocytes showed 49,XXXXY. Chromosome culture and karyotyping of his parents and brothers showed a normal chromosomal configuration.49,XXXXY syndrome is a rare sex chromosome aneuploidy. To date, >100 cases had been published in the literature (3). Males with 49,XXXXY are severely affected. They manifest developmental delay. However, Borghgraef et al. reported infants small for their age who had significant catch-up growth, being at the 50th to 75th centiles after age 4 years. Variable mental retardation is found, with IQs ranging from 20 to 70. There is some evidence of decline in intellectual performance with age. Affected individuals may be extremely shy and timid. Language development is especially retarded. Hypotonia, joint laxity, or both are found in approximately 33% (2). The phenotype is distinctive. The development of hypergonadotropic hypogonadism occurs in all aneuploidy conditions where males have one or more extra X chromosome(s), and the general evaluation and treatment protocols for testosterone replacement therapy do not currently differ based on the specific genetic diagnosis but therapeutic options for 49,XXXXY are currently being researched. Initial findings have shown significant positive treatment effect in gestural communication and vocabulary development. …