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Biomedical subjects

Jia-Woei Hou

Publications and source records attributed to Jia-Woei Hou.

At least 19 recordsLinked to original sources
PubMed2007

Matched unrelated bone marrow transplantation without splenectomy for a child with Gaucher disease caused by homozygosity of the L444P mutation, who also suffered from schizencephaly.

Splenectomy followed by bone marrow transplantation (BMT) has been applied successfully in the treatment of neuronopathic Gaucher disease (GD). GD in combination with schizencephaly has not previously been reported. We describe a girl who presented with hemiparesis and oculomotor apraxia since infancy, and thereafter developed progressive anemia, thrombocytopenia, hepatosplenomegaly, psychomotor retardation, and skeletal abnormalities. GD caused by homozygosity of the L444P mutation was diagnosed, in combination with schizencephaly. The child received enzyme replacement therapy for 3 years, followed by successful matched unrelated BMT without splenectomy. The strategy of BMT without splenectomy after a period of enzyme replacement may be feasible in neuronopathic GD.

Anemia↗
PubMed2006

Atlantoaxial subluxation with recurrent consciousness disturbance in a boy with Lesch-Nyhan syndrome.

UNLABELLED: Deficiency of the purine salvage enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT) may cause various clinical entities such as Lesch-Nyhan syndrome (LNS). A 9.5-y-old boy with the phenotypic features of LNS, including hyperuricaemia, choreoathetosis, self-mutilation and profound neurological dysfunction, was found to have HPRT deficiency. Normocytic anaemia, hyperuricaemia (uric acid 594.8 micromol/l) and microscopic haematuria with uric acid crystals were noted. Ultrasonography showed bilateral nephrocalcinosis and urinary bladder stones. In addition, he presented with three episodes of consciousness disturbance with limb paresis, possibly caused by atlantoaxial subluxation (AAS) with compression myelopathy. The diagnosis was made by the amount of residual enzyme activity and a single nucleotide substitution on the acceptor site region of intron 5 (IVS5-1 G-->C) of the HPRT gene, inherited from his asymptomatic mother. CONCLUSION: Lesch-Nyhan syndrome is a devastating sex-linked recessive disorder resulting from almost complete deficiency of the activity of HPRT. This report highlights the unusual AAS in a boy with LNS presenting recurrent consciousness change. The mutation described herein is a hitherto unreported splicing error leading to exon 6 skipping of the HPRT gene.

Atlanto-Axial Joint↗
PubMed2006

Successful unrelated mismatched cord blood transplantation in a child with malignant infantile osteopetrosis.

Allogeneic hematopoietic stem cell transplantation represents the only curative option for malignant infantile osteopetrosis (MIOP), a rare disease of infants and young children, characterized by excessive accumulation of mineralized bone and abnormal hematopoiesis. We report a case of successful engraftment and stable full-donor chimerism in a patient with MIOP who underwent unrelated donor cord blood transplantation (CBT). The donor was 2-loci human leukocyte antigen (HLA)-mismatch. After a conditioning regimen based on the combination of busulfan, cyclophosphamide, total body irradiation, and antithymocyte globulin, the patient received a dose of 3.85 x 10(7)/kg of nucleated cells. Neutrophil and platelet engraftment had been achieved by day +33 and +82, respectively, and the patient was discharged home on day +89. A successful engraftment of donor hematopoiesis was demonstrated and the child experienced grade II acute graft-vs.-host disease (GVHD) involving the skin only. A remarkable but non-progressive decrease in lumbar spine bone mineral density was observed in the first nine months post-transplant. This case suggests that unrelated donor CBT may be a feasible option in case of unavailability of a fully HLA-matched related or unrelated donor.

Cord Blood Stem Cell Transplantation↗
PubMed2005

Electroclinical characteristics of seizures-comparing Prader--Willi syndrome with Angelman syndrome.

Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are two clinically distinct neurobehavioral syndromes that are caused by deficiency of gene expression from paternally or maternally derived homologues on chromosome 15q11-q13, respectively. Clinical and genetic heterogeneities are common in both syndromes and they are now regarded as 'sister genetic imprinting syndromes'. This study aimed to describe and compare the electroclinical characteristics of seizures between PWS and AS, and to try to explore the possible mechanisms of epileptogenesis in these two syndromes. Fifty patients with genetically documented PWS and 18 patients with a putative diagnosis of AS were included in this study. These patients were diagnosed on the basis of characteristic physical findings and their neurobehavioral phenotype, as well as cytogenetic and molecular studies. Epileptic seizures were present in 16 of 18 patients with AS, but in only eight of 50 patients with PWS. Using electroencephalography (EEG), the most characteristic findings for AS were rhythmic 2-3 Hz delta waves of high-amplitude that were maximal over the frontal regions, and 3-4 Hz spikes and sharp wave runs posteriorly. These were never seen in PWS. Patients with AS had a much higher incidence of seizures with characteristic EEG findings, similar to those seen in mice that are deficient in a single gene (UBE3A) that displays regional brain-specific imprinting in humans and mice. In this series, cases with no detectable cytogenetic or molecular defect at the AS locus displayed similar AS phenotype, seizure severity and EEG abnormalities compared to those with such a defect. Thus, the UBE3A gene is presumed to be potentially involved in the epileptogenesis of AS. It is also possible that UBE3A and another gene located nearby, gamma-aminobutyric receptorbeta3 subunit, may interact in some way, and result in the severe epilepsy seen with AS. Some patients with PWS and AS share the common EEG features of persistent high-amplitude 4-6 Hz activity in recordings during sleep, and while awake. The significance of such EEG findings needs further experience to clarity.

Adolescent↗
PubMed2005

Recurrent panniculitis associated with generalized lipodystrophy and growth hormone deficiency.

Generalized lipodystrophy (GLD) is characterized clinically by an almost complete lack of fat in adipose tissue. Traditionally, GLD can be divided into congenital and acquired types according to the clinical course and underlying etiologies. Here, we describe a boy with a probable diagnosis of acquired GLD. He showed recurrent panniculitis since early infancy, and short stature with delayed skeletal age (3 years less) and low levels of insulin-like growth factor-1 (IGF-1) and IGF binding protein-3. Growth hormone (GH) deficiency was confirmed by GH provocative tests (peak GH below 5 microg/L). In addition to slow progressive loss of subcutaneous fat tissue, he also suffered from hepatosplenomegaly, recurrent febrile episodes in association with painful nodular skin lesions and abdominal pain. The diagnosis of lipodystrophic panniculitis was confirmed after skin biopsy. The febrile episodes and skin lesions responded to oral corticosteroid with the progression of time. Acquired GLD with GH deficiency (e.g., recurrent panniculitis) may occur as a result of chronic inflammation over the pituitary stalk and pituitary gland. The use of steroid and GH replacement may alleviate this disorder.

Adolescent↗
PubMed2005

Detection of gene deletions in children with chondrodysplasia punctata, ichthyosis, Kallmann syndrome, and ocular albinism by FISH studies.

BACKGROUND: Contiguous gene syndrome (CGS) is characterized by a series of clinical features resulting from interstitial or terminal deletions of various adjacent genes. Several important genes have been identified in the Xp22.3 region to be responsible for genetically heterogeneous diseases. In this study, fluorescence in situ hybridization (FISH) methods were used to detect the extent of gene deletion related to the phenotypes of patients with Xp-CGS. METHODS: The molecular cytogenetic statuses of 23 boys with at least 1 apparent feature of chondrodysplasia punctata (CDP), ichthyosis, Kallmann syndrome, or type 1 ocular albinism and those of their family members were investigated. High-resolution banding and FISH studies were performed using the probes of steroid sulfatase (STS), KAL1 and OA1, to detect the deleted status on Xp22.3 in these patients along with their mothers and/or sisters or maternal grandmothers. RESULTS: All of these boys had normal karyotypes. FISH study showed nullisomy in 9 of the 23 male patients and hemizygosity in all female carriers in the genes on Xp22.3. The existence of 2 or more diseases in the same individual indicates a CGS. In addition, a putative mental retardation-related gene on Xp22.3 locus was considered to be located between X-linked CDP and STS. CONCLUSIONS: The use of FISH probes for the Xp22.3 region allowed us to identify X-linked CGSs, especially in those patients with 2 or more distinct clinical entities or an obvious X-linked disorder.

Albinism, Ocular↗
PubMed2005

Trisomy chromosome (22)(q13.1-qter) as a result of paternal inversion (22)(p11q13.1) proved using region-specific FISH probes.

We present a male infant with multiple congenital anomalies including severe growth retardation, microcephaly, hypertelorism, low-set ears, bilateral cleft lip and palate, micrognathia, cryptorchidism with hypospadias, hemivertebrae, and complex heart defects. The karyotype was 46, XY, rec(22) dup(22q) inv(22)(p11q13)pat. The duplicated segment (q13.1 -->qter), a result of an unbalanced recombinant derived from the paternal inversion (22)(pllq13.1), was confirmed using results of silver staining for nucleolar organizer regions (NOR) and fluorescence in situ hybridization with region-specific probes (D22S75/D22S39 and Mbcr). This case further delineated the clinical entity of duplicated 22q13 or distal trisomy 22.

Abnormalities, Multiple↗
PubMed2004

Congenital arhinia with de novo reciprocal translocation, t(3;12)(q13.2;p11.2).

A female newborn suffering from congenital arhinia with complete airway obstruction is reported. In addition, she had hypertelorism, microphthalmia, high-arched palate, and hypoplasia of the auditory canal and mastoid and facial bones, along with the absence of olfactory bulbs and tracts. She had a de novo reciprocal translocation between chromosomes 3q13.2 and 12p11.2. Certain gene(s) located at either of the breakpoints, 3q13.2 and 12p11.2, may be involved in the pathogenesis of her arhinia.

Abnormalities, Multiple↗
PubMed2004

Biotin responsive multiple carboxylase deficiency presenting as diabetic ketoacidosis.

Multiple carboxylase deficiency (MCD) is a rare inherited metabolic disease of biotin dependency due to deficiency of holocarboxylase synthetase (HCS) or biotinidase deficiency. A 30-month-old female patient who presented with the initial features of diabetic ketoacidosis (severe metabolic acidosis, ketosis, and hyperglycemia), lactic acidemia, moderate hyperammonemia, and generalized organic aciduria is described. Associated symptoms and signs included erythematous skin rashes, alopecia and developmental delay. The patient responded dramatically to treatment with biotin (10 mg/day) showing normalization of clinical symptoms and most biochemical abnormalities. Based on the urine organic profile by gas chromatography/ mass spectrometry (GC/MS), the diagnosis of MCD was made. A plasma tandem mass study confirmed this diagnosis. The biotinase activity in serum was normal, indicating that this was a rare case of late-onset HCS deficiency.

Biotin↗
PubMed2004

Partial chromosomal 11q trisomy as an unbalanced result of t(11;13)(q23.1;q34)mat in two sisters.

Partial trisomy of chromosome 11q is a rare but rather distinct clinical syndrome. Cases of distal trisomy of chromosome 11(q23.1-qter) in 2 sisters are described. The features included microbrachycephaly, long philtrum, retracted lower lip, short neck, heart defects, marked leukocytosis, and psychomotor retardation. These patients died at the age of 3 months and 6 months, respectively. Chromosome analyses showed a distal trisomy 11q resulting from maternal t(11;13)(q23.1;q34). Fluorescence in situ hybridization using the painting probes for chromosomes 11 and 13, along with a unique sequence for mixed lineage leukemia (MLL) gene confirmed this condition. The phenotypes of both sisters are most likely to be related to partial trisomy of 11q and a triplicated gene dosage of MLL.

Abnormalities, Multiple↗
PubMed2004

Variable expressivity in a family with Kabuki make-up (Niikawa-Kuroki) syndrome.

Kabuki make-up syndrome (KS), also called Niikawa-Kuroki syndrome, is a rare congenital disorder of unknown etiology. Most KS cases occur sporadically and familial KS had never been reported in Taiwan. I describe four individuals in one family with KS. Significant intrafamilial variability in the clinical expression of this syndrome is evident. In addition to the typical craniofacial dysmorphism and cleft palate and/or cleft lip that the three children inherited from their father, rare anomalies such as lower lip pits and growth hormone deficiency in one girl and right-sided acrotia in one boy were noted. High-resolution banding did not detect any chromosomal structural anomalies. These findings further suggested the autosomal inheritance (from the father to two sons and one daughter) in KS and highlighted the overlapping phenotype with van der Woude syndrome.

Abnormalities, Multiple↗
PubMed2004

Bardet-Biedl syndrome initially presenting as McKusick-Kaufman syndrome.

Bardet-Biedl syndrome (BBS) and McKusick-Kaufman syndrome (MKKS) are rare congenital disorders of autosomal recessive inheritance. Because of the phenotypic overlap of both syndromes, including hydrometrocolpos (HMC) and postaxial polydactyly (PAP) in the neonatal stage, the potential for diagnostic confusion exists. A case of BBS with the initial presentation of MKKS is reported. MKKS was diagnosed during the neonatal period based on the classical findings of HMC together with vaginal atresia and PAP. However, follow-up examination after the age of 2 years revealed additional clinical features consistent with BBS, including mental retardation, obesity, and retinitis pigmentosa. A rehabilitation program was undertaken for the problems of moderate motor delay and slurred speech. MKKS may be considered as a variant of BBS. Careful monitoring for the complications of BBS including ophthalmologic, neurologic, and urologic assessments should be performed in patients with MKKS.

Abnormalities, Multiple↗
PubMed2004

Mosaic ring chromosome 14 and monosomy 14 presenting with growth retardation, epilepsy, and blepharophimosis.

Ring chromosomes are rare chromosomal anomalies and usually not stable in nature. Patients carrying ring chromosome have various phenotypes depending on the degree of structural rearrangement. A 1-year-old boy, presenting with hypotonia, blepharophimosis, ptosis, a bulbous nose, mild psychomotor retardation, and epilepsy, was found to have mosaicism of chromosome ring 14 and monosomy 14. His karyotype is described as hitherto unreported mos 46, XY, r(14)(p11.2q32.31 or q32.2)[84]/45, XY,-14[10]/46, XY, dic r(14)[6]. His seizures responded well to phenobarbital. He has marked growth retardation but less serious delays in mental and motor development than those with ring 14 described in the literature.

Abnormalities, Multiple↗
PubMed2004

49, XXXXY syndrome.

49, XXXXY syndrome is a rare sex chromosomal disorder. A 5-month-old boy had failure to thrive and multiple congenital anomalies including microcephaly, facial dysmorphism (hypertelorism, megacornea, cleft palate, and micrognathia), obvious heart murmur, umbilical hernia, microphallus, and mild clenched hands. Chromosomal studies via techniques of G-banding and fluorescence in situ hybridization showed the constitution to be 47, XXXXY in all cells. Ventriculomegaly and congenital cardiac defects (patent ductus arteriosus, atrial septal defect, and peripheral pulmonary stenosis) were noted. He has severe atopic dermatitis with high IgE levels and psychomotor retardation. After heart surgery and nutritional support, he has better growth and the rehabilitation program is continuing.

Abnormalities, Multiple↗
PubMed2004

Inherited tandem duplication of the X chromosome: dup(X)(q13.2-q21.2) in a family.

A 2-year-old boy who was failing to thrive and who had multiple anomalies was found to have a maternally derived tandem duplication of the long arm of the X chromosome: dup(X)(q13.2-q21.2). The karyotyping interpretation was further confirmed by fluorescence in situ hybridization studies in which a double gene dosage of the X-inactivation-specific transcript (gene locus on Xq13.2) and a whole chromosome X painting on the abnormal X were noted. He suffered from hypotonia, gastroesophageal reflux, laryngomalacia, recurrent infections, immunodeficiency (IgG4 deficiency), dysgenesis of the corpus callosum, proximal renal tubular acidosis, and nephrolithiasis. His mother and elder sister also had the same rearrangement, the dup(X), on one of their X chromosomes. However, the mother was in good health, but the sister suffered from nephrolithiasis. The clinical variability in this family with the Xq duplication is reported and discussed.

Abnormalities, Multiple↗