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Cockayne syndrome group G with severe neurological involvement in infancy
A.58
Abstracts
083 A case of Tay syndrome with cerebral hypomyelination E DEMIR, S AYSUN Department Hacettepe,
of Paediatric Neurology, Ankara, Turkey
University
of
We report on a 2-year-old boy with Tay syndrome. He was born at 31 weeks of gestation with a birth weight of 12OOg. Parchment-like skin was noted at birth. He showed significant delay in motor and mental development. He experienced afebrile convulsions twice at the age of 14 months. He was admitted to Hacettepe Children’s Hospital because of frequent pulmonary infections. Physical examination revealed short stature, ichthyosis, brittle hair (trichothiodystrophy), prematurely aged facial appearance, nail dysplasia, hallux valgus deformity, nystagmus, increased deep tendon reflexes and ataxia. Polarizing microscopy of the hair showed a typical appearance of light and dark bands. Cranial MRI revealed an abnormal increased signal involving cerebral hemispheres on T2 weighting images, compatible with hypo or dysmyelination. To the best of our knowledge, central white matter dysmyelination was described in only one patient with Tay syndrome. We suggest that Tay syndrome should be included among the causes of cerebral hypomyelination.
which slowly gave place to small skin cancers. Her subsequent course was indicative of a neurodegenerative disorder: arrested head circumference (microcephaly) with somatic and neurological retardation and development of infantile spasms with burst-suppression pattern in EEG at the age of 8 months. Her clinical picture was that of a severe psychomotor regression with generalized hypertonia and loss of eye contact. Brain MRI demonstrated brain atrophy and brainstem-evoked potentials studies showed further deterioration of her hearing impairment. Skin biopsy and ultraviolet-sensitivity studies were performed revealing strongly deficient DNA repair synthesis after ultraviolet-light exposure. Further complementation studies established the diagnosis of severe xeroderma pigmentosum/Cockayne syndrome group G, a rare combination with less than 20 patients reported worldwide so far (molecular analysis is still pending).
399
Pachygyria and polymicrogyria, craniofacial dysmorphism and atrioventricular canal resulting from a duplication of the proximal region of chromosome llq (llqll->llq12) 0 DUPUY,’ I HUSSON,2 J WIRTH,3 J WISS,’ C NESSMANN,’ P EVRARD,2 P EYDOUX’
065 Xeroderma pigmentosum/Cockayne syndrome group C with severe neurological involvement infancy
in
D I ZAFEIRIOU, A ANDREOU,’ M XATJIPANTELIS, W J KLEIJER,’ N G JASPERS,2 N GOMBAKIS, P AUGOUSTIDOU-SAVVOPOULOU, G KATZOS 1st Department of Pediatrics, Aristotle University of Thessaloniki; ‘Department of Neonatologp Hippokatio General Hospital, Thessaloniki, Greece; Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands
Xeroderma pigmentosum is a rare autosomal-recessive disease characterized by increased frequency of sunlightinduced skin cancers. Cockayne syndrome is another rare recessive disorder with sun sensitivity, short stature and progressive neurological degeneration. We describe a premature, small-for-gestational-age, infant girl with microphthalmia, bilateral congenital cataract and mild respiratory distress syndrome, hospitalized for a week. At that time she experienced an episode of erythema with massive desquamation of the skin, after minimal exposure to phototherapy. Family history and pregnancy were uneventful. An extended investigation (including brain ultrasound and CT, TORCH titles, metabolic workup and chromosomal examination) demonstrated no abnormalities except for absent otoacoustic emissions and abnormal brainstem-evoked potentials findings, indicative of a severe sensorineural deafness for which hearing aids were prescribed. At the age of 3 months the patient exhibited a massive photosensitive reaction with erythema and blistering after minimal sun exposure,
’Laboratoire Pediatrique, Max-Planck,
de CytogeWtique; 2Service de Neurologie Hepita/ Robert-Deb@ Paris, France; 31nstitut Berlin, Germany
Very few cases of imbalance of the paracentromeric region of chromosome 11 have been described. We report a patient with delayed development, seizures, craniofacial dysmorphism and a congenital heart disease, with a duplication of the centromere and paracentromeric region of chromosome 11. This male patient was born at 41 weeks; oligohydramnios, intrauterine growth retardation and a small biparietal diameter were noted during the pregnancy. An amniocentesis was performed and did not demonstrate any chromosomal aberration. Clinical abnormalities included unusual craniofacial features (microcephaly, facial asymmetry, upslanted palpebral fissures, dysplasia of the right ear, high arched palate), seizures, sleep disturbance, axial hypotonia with limb hypertonia. An atrioventricular canal was associated with an auricular septal defect. Polymicrogyria and pachygyria were seen at MRI examination. Cytogenetic investigation from blood and skin samples demonstrated mosaicism for a dicentric chromosome 11, as seen with G- and R-banding. C-banding demonstrated the presence of two centromeres, with a small interposed euchromatic extra-band. Parental karyotypes were normal. Using a whole chromosome painting probe, we demonstrated an intrachromosomal rearrangement. With yeast artificial chromosome probes, we were able to further characterize this rearrangement as a duplication of the proximal part of the long arm of chromosome llq (band q12-ql3). To our knowledge, this is the first report on trisomy of this part of the genome resulting in an abnormal phenotype.
Abstracts
083 A case of Tay syndrome with cerebral hypomyelination E DEMIR, S AYSUN Department Hacettepe,
of Paediatric Neurology, Ankara, Turkey
University
of
We report on a 2-year-old boy with Tay syndrome. He was born at 31 weeks of gestation with a birth weight of 12OOg. Parchment-like skin was noted at birth. He showed significant delay in motor and mental development. He experienced afebrile convulsions twice at the age of 14 months. He was admitted to Hacettepe Children’s Hospital because of frequent pulmonary infections. Physical examination revealed short stature, ichthyosis, brittle hair (trichothiodystrophy), prematurely aged facial appearance, nail dysplasia, hallux valgus deformity, nystagmus, increased deep tendon reflexes and ataxia. Polarizing microscopy of the hair showed a typical appearance of light and dark bands. Cranial MRI revealed an abnormal increased signal involving cerebral hemispheres on T2 weighting images, compatible with hypo or dysmyelination. To the best of our knowledge, central white matter dysmyelination was described in only one patient with Tay syndrome. We suggest that Tay syndrome should be included among the causes of cerebral hypomyelination.
which slowly gave place to small skin cancers. Her subsequent course was indicative of a neurodegenerative disorder: arrested head circumference (microcephaly) with somatic and neurological retardation and development of infantile spasms with burst-suppression pattern in EEG at the age of 8 months. Her clinical picture was that of a severe psychomotor regression with generalized hypertonia and loss of eye contact. Brain MRI demonstrated brain atrophy and brainstem-evoked potentials studies showed further deterioration of her hearing impairment. Skin biopsy and ultraviolet-sensitivity studies were performed revealing strongly deficient DNA repair synthesis after ultraviolet-light exposure. Further complementation studies established the diagnosis of severe xeroderma pigmentosum/Cockayne syndrome group G, a rare combination with less than 20 patients reported worldwide so far (molecular analysis is still pending).
399
Pachygyria and polymicrogyria, craniofacial dysmorphism and atrioventricular canal resulting from a duplication of the proximal region of chromosome llq (llqll->llq12) 0 DUPUY,’ I HUSSON,2 J WIRTH,3 J WISS,’ C NESSMANN,’ P EVRARD,2 P EYDOUX’
065 Xeroderma pigmentosum/Cockayne syndrome group C with severe neurological involvement infancy
in
D I ZAFEIRIOU, A ANDREOU,’ M XATJIPANTELIS, W J KLEIJER,’ N G JASPERS,2 N GOMBAKIS, P AUGOUSTIDOU-SAVVOPOULOU, G KATZOS 1st Department of Pediatrics, Aristotle University of Thessaloniki; ‘Department of Neonatologp Hippokatio General Hospital, Thessaloniki, Greece; Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands
Xeroderma pigmentosum is a rare autosomal-recessive disease characterized by increased frequency of sunlightinduced skin cancers. Cockayne syndrome is another rare recessive disorder with sun sensitivity, short stature and progressive neurological degeneration. We describe a premature, small-for-gestational-age, infant girl with microphthalmia, bilateral congenital cataract and mild respiratory distress syndrome, hospitalized for a week. At that time she experienced an episode of erythema with massive desquamation of the skin, after minimal exposure to phototherapy. Family history and pregnancy were uneventful. An extended investigation (including brain ultrasound and CT, TORCH titles, metabolic workup and chromosomal examination) demonstrated no abnormalities except for absent otoacoustic emissions and abnormal brainstem-evoked potentials findings, indicative of a severe sensorineural deafness for which hearing aids were prescribed. At the age of 3 months the patient exhibited a massive photosensitive reaction with erythema and blistering after minimal sun exposure,
’Laboratoire Pediatrique, Max-Planck,
de CytogeWtique; 2Service de Neurologie Hepita/ Robert-Deb@ Paris, France; 31nstitut Berlin, Germany
Very few cases of imbalance of the paracentromeric region of chromosome 11 have been described. We report a patient with delayed development, seizures, craniofacial dysmorphism and a congenital heart disease, with a duplication of the centromere and paracentromeric region of chromosome 11. This male patient was born at 41 weeks; oligohydramnios, intrauterine growth retardation and a small biparietal diameter were noted during the pregnancy. An amniocentesis was performed and did not demonstrate any chromosomal aberration. Clinical abnormalities included unusual craniofacial features (microcephaly, facial asymmetry, upslanted palpebral fissures, dysplasia of the right ear, high arched palate), seizures, sleep disturbance, axial hypotonia with limb hypertonia. An atrioventricular canal was associated with an auricular septal defect. Polymicrogyria and pachygyria were seen at MRI examination. Cytogenetic investigation from blood and skin samples demonstrated mosaicism for a dicentric chromosome 11, as seen with G- and R-banding. C-banding demonstrated the presence of two centromeres, with a small interposed euchromatic extra-band. Parental karyotypes were normal. Using a whole chromosome painting probe, we demonstrated an intrachromosomal rearrangement. With yeast artificial chromosome probes, we were able to further characterize this rearrangement as a duplication of the proximal part of the long arm of chromosome llq (band q12-ql3). To our knowledge, this is the first report on trisomy of this part of the genome resulting in an abnormal phenotype.