Neurological Complications of the Ring(22) Syndrome: A Case Report Norio Sakuragawa, MD, Kimiko Adachi, MD, Mari Hayashi, MD, and Nobuyoshi Fukuhara,
The first Japanese case of the ring (22) syndrome was described. The patient had diffuse neurological involvement of the central, peripheral nerves and muscles in addition to the phenotypical characteristics of this syndrome. Sakuragawa N, Adachi K, Hayashi M, Fukuhara N: Neurological complications of the ring (22) syndrome: A case report. Brain Dev 2: 91-96, 1979
Reisman et al [10] and Welber et al [17] have each reported one child with a deleted G chromosome who showed a distinctly different clinical phenotype from that of "antimongolism." Warren et al [15. 16] proposed that these syndromes should be referred to as "G deletion syndrome I (antimongolism)" with a deleted or ring No 21 and" G deletion syndrome II" with a deleted or ring No 22 chromosome. The clinical characteristics of G deletion syndrome II, which were summarized by Warren et al [15] include mental retardation, microcephaly, high-arched palate, large or lowset ears, hypotonia epicanthal folds, syndactyly of toes, ptosis, bifida uvula and clinodactyly. Magenis et al [3] and Crandall et al [2] succeeded in identification of 22 r chromosome by quinacrine fluorescence [1]. Rethore [7] described 14 cases in his series of this syndrome which were subjected to chromosome investigaFrom the Departments of Neurology, Brain Research Institute (NS, MH, NF), and Hygiene (KA), Niigata University, Niigata. Received for pUblication: December 29, 1978. Accepted for pUblication: May 14, 1979.
Key words: Chromosome aberration, ring (22) syn· drome, neurological complication. Correspondence- address: Dr. Norio Sakuragawa, Division of Child Neurology, National Center for Nervous, Mental and Muscular Disorders, 2620, Ogawa-Higashimachi, Kodaira, Tokyo 187, Japan.
tion by the G or R banding technique. We report the first Japanese case of the (22) syndrome, with special attentin to the neurological complications, who suffered from diffuse involvement in both the central and peripheral nervous systems in addition to the characteristic findings of muscle biopsy. Case Report The patient is an 8-year-old boy who was the product of a normal pregnancy with a slight weak fetal movement. He was born ,to non consanguineous and healthy mother, aged 21 and father, aged 29. There are no other siblings. Labor was induced by medications 10 days prior to the due date because of slight spotting. Delivery was complicated by breech presentation, forceps extraction and umbilical coiling which led to slight asphyxia at birth. Birth weight was 2,150 g. He had to have nasal feeding for the first week of life because of poor sucking. The neonatal period was unremarkable except for a high fever (39.0°C) on the 4th day without any detectable causes. The acquisition of milestones was retarded; head control at 6 months, sitting without support at 10 months, smile at one year, standing with support at 5 years and jargon at 6 years old. At the age of 7 years, he developed a generalized convulsion and has been treated with anticonvulsants with
Chromosome studies were carried out by lymphocyte culture on two occasions. occasions. Karyotypic analysis of all 25 cells revealed 46, XY, G(r), which was confirmed by G staining [1] (Figs 6 and 7). The karyotype of his mother was 46 XX. His blood type is the same as that of his mother which is type a 0 and D (+). Discussion
tJII"""---"~""'-f./'~Ir--*~J,J~r'''V\/"-v'"~0~.-J'",.Ar'J_·~,''vt ..-. "'" _" ..."'"'-'I ........ I'~ _ _ J,-...J .....\ ... '..,h-J"J ./., . ... ~-.'-
• _"~''''".< , ... : ... .. )J'\.
The first Japanese case of the ring (22) syndrome was described. The patient had diffuse neurological involvement of the central, peripheral nerves and muscles in addition to the phenotypical characteristics of this syndrome. Sakuragawa N, Adachi K, Hayashi M, Fukuhara N: Neurological complications of the ring (22) syndrome: A case report. Brain Dev 2: 91-96, 1979
Reisman et al [10] and Welber et al [17] have each reported one child with a deleted G chromosome who showed a distinctly different clinical phenotype from that of "antimongolism." Warren et al [15. 16] proposed that these syndromes should be referred to as "G deletion syndrome I (antimongolism)" with a deleted or ring No 21 and" G deletion syndrome II" with a deleted or ring No 22 chromosome. The clinical characteristics of G deletion syndrome II, which were summarized by Warren et al [15] include mental retardation, microcephaly, high-arched palate, large or lowset ears, hypotonia epicanthal folds, syndactyly of toes, ptosis, bifida uvula and clinodactyly. Magenis et al [3] and Crandall et al [2] succeeded in identification of 22 r chromosome by quinacrine fluorescence [1]. Rethore [7] described 14 cases in his series of this syndrome which were subjected to chromosome investigaFrom the Departments of Neurology, Brain Research Institute (NS, MH, NF), and Hygiene (KA), Niigata University, Niigata. Received for pUblication: December 29, 1978. Accepted for pUblication: May 14, 1979.
Key words: Chromosome aberration, ring (22) syn· drome, neurological complication. Correspondence- address: Dr. Norio Sakuragawa, Division of Child Neurology, National Center for Nervous, Mental and Muscular Disorders, 2620, Ogawa-Higashimachi, Kodaira, Tokyo 187, Japan.
tion by the G or R banding technique. We report the first Japanese case of the (22) syndrome, with special attentin to the neurological complications, who suffered from diffuse involvement in both the central and peripheral nervous systems in addition to the characteristic findings of muscle biopsy. Case Report The patient is an 8-year-old boy who was the product of a normal pregnancy with a slight weak fetal movement. He was born ,to non consanguineous and healthy mother, aged 21 and father, aged 29. There are no other siblings. Labor was induced by medications 10 days prior to the due date because of slight spotting. Delivery was complicated by breech presentation, forceps extraction and umbilical coiling which led to slight asphyxia at birth. Birth weight was 2,150 g. He had to have nasal feeding for the first week of life because of poor sucking. The neonatal period was unremarkable except for a high fever (39.0°C) on the 4th day without any detectable causes. The acquisition of milestones was retarded; head control at 6 months, sitting without support at 10 months, smile at one year, standing with support at 5 years and jargon at 6 years old. At the age of 7 years, he developed a generalized convulsion and has been treated with anticonvulsants with
Chromosome studies were carried out by lymphocyte culture on two occasions. occasions. Karyotypic analysis of all 25 cells revealed 46, XY, G(r), which was confirmed by G staining [1] (Figs 6 and 7). The karyotype of his mother was 46 XX. His blood type is the same as that of his mother which is type a 0 and D (+). Discussion
tJII"""---"~""'-f./'~Ir--*~J,J~r'''V\/"-v'"~0~.-J'",.Ar'J_·~,''vt ..-. "'" _" ..."'"'-'I ........ I'~ _ _ J,-...J .....\ ... '..,h-J"J ./., . ... ~-.'-
• _"~''''".< , ... : ... .. )J'\.
