Yoshitsugu Sugio

Two unrelated cases of single maxillary central incisor with 7q terminal deletion

SummaryTwo unrelated cases of single maxillary central incisor (SMCI) with 7q terminal deletion of the same breakpoint at 7q36.1 were described. They had mental retardation, microcephaly, hypotelorism, short stature, and normal levels of plasma growth hormone. One case had bilateral caudal ectopic kidneys, double renal pelves, and dilated ureters. The other had bilateral hydroureteronephrosis. The present cases suggest that 7q terminal deletion is one of the causes of SMCI.

Two Japanese cases with microcephalic primordial dwarfism: Classical seckel syndrome and osteodysplastic primordial dwarfism type II

SummaryA male infant with “classical” Seckel syndrome and a girl with osteodysplastic primordial dwarfism type II are described. The boy with classical Seckel syndrome had severe brain dysplasia, a finding hitherto unreported in patients with this syndrome. The patient with osteodysplastic dwarfism type II had skeletal abnormalities including lumbar scoliosis, a small and high pelvis, metaphyseal flaring of the distal radii and ulnae, V-shaped metaphyseal flaring of the distal femorae, and short metacarpals and phalanges. The mother of this girl was short, microcephalic, and had disproportionately short forearms and legs. In view of this, dominant inheritance of the disease was suggested.

A case of rhabdomyosarcoma of the bladder with a (2;5) chromosomal translocation in peripheral lymphocytes

Chromosome analysis was performed on peripheral blood lymphocytes of a patient with rhabdomyosarcoma of the urinary bladder. It showed a reciprocal t(2;5) translocation with the breakpoints at 2q37.3 and 5q31.3. This is the first report of such an anomaly in the peripheral lymphocytes of a patient with rhabdomyosarcoma of the urinary bladder.

Successful treatment of echovirus meningoencephalitis in sex-linked agammaglobulinaemia by intrathecal and intravenous injection of high titre gammaglobulin.

A 7-year-old boy with sex-linked agammaglobulinaemia developed meningoencephalitis caused by echovirus type 11. He had convulsions, right hemiplegia, cortical motor aphasia, left abducens nerve paralysis, left hypoglossal nerve paralysis, and later became unconscious. Treatment by intravenous injection of conventional gammaglobulin and intrathecal alpha-interferon brought no clinical improvement, but intrathecal administration together with intravenous injection of gammaglobulin containing a high titre of anti-echovirus type 11 antibody was assciated with a dramatic improvement in his clinical symptoms. After subsequent periodical (once or twice a week) administration of specific gammaglobulin for 8 months, the echovirus in his cerebrospinal fluid was no longer detected. These findings suggest that intrathecal injection combined with intravenous injection of high titre antiechovirus type 11 antibodywas effective in treating this case of echovirus meningoencephalitis in sex-linked agammaglobulinaemia.

Translocation t(X;21)(q13.3; p11.1) in a girl with Menkes disease

A girl with a 46,X,t(X;21) (q13.3;p11.1) karyotype presented with skin redundancy, especially in the neck, prominent occiput and micrognathia, and later developed hypotonia, hypopigmentation, sparse scalp hair, and profound mental retardation characteristic of Menkes disease. Her serum copper (14 microg/dl) and ceruloplasmin (9 mg/dl) levels were extremely low. Fluorescent in situ hybridization analysis with a 100-kb P1-derived artificial chromosome probe containing the Menkes disease gene demonstrated three twin-signals, one on the normal X chromosome and one each on derivative chromosomes X and 21, indicating that the Xq13.3 breakpoint was located within the gene. Replication pattern analysis showed that the normal X chromosome was late replicating, whereas the derivative X chromosome was selectively early replicating. These results indicated that Menkes disease in our patient resulted from a de novo translocation that disrupts the disease gene.

Partial distal 12q trisomy with arachnoid cyst

SummaryA three-year-old boy with partial distal 12q trisomy, 46,XY, der(9),t(9;12)(q34.3;q24.31)mat, is described. To our best knowledge, this is the second case in Japan. He has an arachnoid cyst, which has not yet been described in the literature.

Family study of common fragile sites

SummaryThe frequency of folate-sensitive common fragile sites (1p31, 1q44, 3p14, 3q26.2, 6q26, 16q23, Xp22.3) was determined in 19 healthy individuals from four families. The individuals consisted of 12 males and 7 females from 1 to 59 years of age. The frequency showed intrafamilial variation, but we were unable to demonstrate that the frequency was inherited in a Mendelian codominant fashion. In eight subjects whose chromosome 3 homologues could be distinguished by Q-band polymorphism, breakages at 3p14 occurred with equal frequencies on the homologues. Our study suggests that common fragile sites are a part of normal chromosome structure, and the frequency of their expression largely depends on environmental factors.

Common fragile sites induced by folate deprivation, BrdU and aphidicolin: their frequency and distribution in Japanese individuals.

SummaryThe frequencies and distribution of common fragile sites in normal Japanese individuals were studied using lymphocyte chromosome preparations from cultures under folate deprivation, 5-bromodeoxyuridine (BrdU) or aphidicolin treatment. Defining the 4% level of total breaks as a cut-off point, 13 folate-sensitive, 20 BrdU-induced and 8 aphidicolin-induced sites were identified in one or more individuals studied. After eliminating overlapping, 28 fragile sites were identified. Of these, 23 have been reported, while the other five have not been described. Of the latter, those at 4q34 and 6q22 were each found in only one individual. The site at 3q26.2 has not been reported but one at 3q27 has been identified. Excluding these three sites as inconclusive, there remain two sites hitherto undescribed: 1) a folate-sensitive site at 17q21, found in two of eight individuals studied, and 2) a BrdU-requiring site at 13q31, found in five of eight individuals.

Spondylocostal dysostosis: Report of three patients

SummarySpondylocostal dysostosis was present in three unrelated girls: a newborn with a severe from, a 16-year-old girl and a 17-month-old infant both with a mild form of the disease. They had clinical and radiographic manifestations typical of the syndrome, and in addition, several abnormalities not described previously. The latter included a right ovarian cyst and hypoplasia of the left leg in Patient 1, and aplasia of the left kidney in Patient 2. The three patients, each with different clinical manifestations, illustrate genetic heterogeneity of the syndrome.

Diffuse pulmonary arteriovenous fistulae secondary to patent ductus venosus

We report on a 10-year-old girl in whom a patent ductus venosus caused diffuse pulmonary arteriovenous fistulae which were cured after surgical closure of the ductus. A 4-year-old Japanese girl developed hyperthyroidism in December 1995. In March 2000, systemic lupus erythematosus (SLE) was diagnosed with findings of photosensitivity, thrombocytopenia, and positive autoantibodies. Remission of SLE was obtained by administration of methylprednisolone. The patient developed exercise intolerance in May 2000, followed by the appearance of cyanosis of the lips and digital clubbing. Arterial blood gases revealed a PaO2 of 56.6 mm Hg and a PaCO2 of 30.1 mm Hg. Perfusion scintigraphy of the lung using Tc-macroagglutinated albumin demonstrated the presence of significant right-to-left shunting. Pulmonary arteriography showed a pattern indicating diffuse pulmonary arteriovenous fistulae (D-PAVF) (Fig. 1). Mean pulmonary arterial pressure was 9 mm Hg. Laboratory examinations showed mild hepatic dysfunction (AST 57 U/l,