Summary:BMT was carried out on a patient with DiGeorge syndrome who suffered recurrent infections after birth. At 13 months of age, 8.0 × 10 8 /kg of bone marrow nuclear cells were infused from an HLA-identical sibling using only anti-thymocyte globulin to prevent rejection. Donor DNA was not detected on microsatellite polymorphism by PCR. At 19 months of age, a second BMT from the same donor was carried out using busulfan and cyclophosphamide as conditioning. DNA examination of bone marrow showed chimerism at day 18 and complete donor origin at day 28. Seven months post-BMT, the numbers of CD3-, CD4-and CD8-positive cells were in the normal range. BMT is thus an effective therapy for DiGeorge syndrome. Keywords: DiGeorge syndrome; complete type; immunodeficiency; bone marrow transplantation DiGeorge syndrome (DGS) is characterized by dysmorphic faces, congenital heart disease, hypocalcemia and T cell dysfunction due to aplasia of the thymus. 1 Although confirmation of aplasia of the thymus is difficult, it is clinically classified as complete or incomplete; the former manifests with cellular immunodeficiency and the latter does not. 2 Therapies for the immunodeficient type of this syndrome have been fetal thymus transplantation, thymic hormone administration and bone marrow transplantation (BMT). For thymic transplantation, it is necessary to use fetal thymic tissue 3 or to use cultured thymic epithelial tissue, since it is not as easy to get donor cells. For thymic hormones such as thymosin, thymopoietin and thymulin, it is unclear what nature of thymic hormones should be used and over what time period, results have varied. 4 BMT has been attempted for DGS in seven patients 5 and two of these underwent transplantation without any pre-conditioning, with favourable results. 6,7 Here, we report a patient with complete-type DGS treated with BMT who exhibited reconstitution of T cell immunity.Correspondence: T Matsumoto, Department of Pediatrics, Nagasaki University School of Medicine, Sakamoto 1-7-1, Nagasaki 852, Japan Received 6 February 1998; accepted 8 July 1998 Case reportA boy was born at 39 weeks gestation with an Apgar score of 7. His birth weight was 3275 g. There were no special events during gestation except for polyhydramion. Family history was negative. He showed cyanosis after birth and respiratory arrest occurred at day 6 probably due to hypocalcemia, and he was referred to the National Nagasaki Central Hospital. He showed the characteristic facial features such as a hypertelorism, narrowed palpebral fissures, low set ears, deformity of both ear helices, anteverted nostrils, a shortened philtrum, micrognathia and a high arched palate. He had hypocalcemia with a low plasma level of parathyroid hormone. Chest X-ray, ultrasound and computed tomography (CT) showed no thymus-like components. Echocardiogram and cardiac catheterization revealed tetralgy of Fallot. He failed to thrive, and showed a tendency towards infection after admission, including repeated episodes of fever and continuous presence of ec...

Donepezil may be a useful medicine for some patients with Down syndrome with severe cognitive impairment or mental retardation if the adverse effects are manageable.

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The childhood cerebral form of X-linked adrenoleukodystrophy (X-ALD) is a severe congenital metabolic disease without a definite effective therapy except for hematopoietic stem cell transplantation in the appropriate disease stage. Seven Japanese families with X-ALD were analyzed for mutations in the ALD gene (ALD). Of the seven families, three were referred to us for prenatal diagnosis, four for carrier detection, and three for confirmation diagnosis of patients. By nucleotide sequencing and/or restriction analysis, all the subjects to be examined were successfully diagnosed. Six different missense mutations in ALD were identified. There was a GAEA substitution (G512S) in two unrelated families, and a GAEA (R617H), a CAET (R660W), a GAEC (R163P), a CAET (S606L), or a GAEA (G116E) substitution in each of the other five families. Among the six substitutions, five were those reported previously and the other was a novel mutation. In three families, prenatal diagnosis was carried out after genetic counseling.

We report the case of a Japanese girl with a severe type of Moebius syndrome. Her morphological features were a mask-like face, limitation of horizontal eye movements, severe bulbar palsy, multiple and bilateral arthrogryposis including the elbow, knee, and ankle joints, and clubfeet. After birth, her general condition became worse because of repeated apneic spells and aspiration pneumonias due to dysphagia. She finally required tracheotomy. Computed tomography (CT) of the brain revealed minute calcifications on the fourth ventricle floor; this may have been due to severe damage to the brain stem. It is most likely that the various manifestations in our patient were due to disturbance of the blood supply to arteries perfusing the brain stem and to some other arteries, at a critical stage of fetal development.