Characterization of a chromosome 8-derived minute marker chromosome using microdissection and FISH in a boy with growth retardation.

In a 9-year-old boy referred because of growth retardation, chromosome analysis showed the presence of a minute marker chromosome in 75% of the metaphases examined. The application of microdissection in combination with fluorescence in situ hybridization demonstrated that the marker was derived from the centromere region of chromosome 8, the karyotype being: mos 47,XY,+mar.ish der(8)(D8Z1+)[75]/46,XY[25]. The clinical and cytogenetical findings are compared with cases previously reported in the literature.

Phenotypic variability of the cat eye syndrome. Case report and review of the literature.

We present a male infant with preauricular skin tags and pits, downslanting palpebral fissures, hypertelorism, ectopic anus, hypospadias, and hypoplastic left heart syndrome. The clinical features in our patient show phenotypic overlap with the cat eye syndrome, as illustrated by the review of 105 reported cases. Cytogenetic analysis revealed a supernumerary marker chromosome, which was identified by microdissection and fluorescence in situ hybridization as an isodicentric chromosome 22(pter --> q11.2::q11.2 --> pter). It was proved with probes specific for the cat eye syndrome critical region that this region was present in quadruplicate in the propositus. We conclude that CES is characterized by large phenotypic variability, ranging from near normal to severe malformations, as reflected in the neurodevelopmental outcome. Preauricular skin tags and/or pits are the most consistent features, and suggest the presence of a supernumerary bisatellited marker chromosome 22 derived from duplication of the CES critical region.

Acid steatocrit: a reliable screening tool for steatorrhoea.

UNLABELLED: This study compared the acid steatocrit (AS) results of healthy children with those of sick children with and without gastrointestinal involvement. Stool samples of 166 children were investigated, comprising 50 healthy children, 26 asthma patients, and 90 patients with gastrointestinal problems divided into 34 treated cystic fibrosis (CF) patients with exocrine pancreatic insufficiency, 16 untreated coeliac disease (CD) patients and 40 patients with various gastrointestinal problems. The median values (5th-95th percentile) of AS results were 3.3% (0.0-21%) for healthy children, 4.5% (1.8-22.5%) for asthma patients, 24.7% (2.6-68.2%) for treated CF patients with exocrine pancreatic insufficiency, 19.8% (3-77.7%) for untreated CD patients and 5.5% (1.8-29%) for patients with various gastrointestinal diseases. CONCLUSION: The AS results of treated CF patients with exocrine pancreatic insufficiency and untreated CD patients were similar and significantly higher than those of healthy children and asthma patients. AS can be considered to be a reliable tool in screening for steatorrhoea in paediatric patients.

De novo translocation (2;18)(q21;q22) in a child with severe epilepsy, developmental delay and mild dysmorphism.

De novo translocation (2;18)(q21;q22) in a patient with severe epilepsy developmental delay and mild dysmorphism: We report on a patient presenting with severe epilepsy, hypotonia, developmental delay, blepharophimosis, low-set ears, camptodactyly and tapering fingers, and cutaneous syndactyly of toes II and III of the right foot. The MRI showed some loss of volume of the white matter and delayed myelination, no other specific anomalies were present. Chromosome analysis revealed a translocation involving chromosomes 2 and 18, which was characterized further by FISH using band-specific probes. The possibility of a submicroscopic deletion is discussed and the patient is compared with patients reported in the literature with either 2q21 or 18q22 deletion.

[Childhood hypophosphatasia]. / Hypofosfatasemie op de kinderleeftijd.

Hypophosphatasia was diagnosed in two boys aged four months and two years. This is a rare hereditary bone disease characterized by deficient activity of enzyme alkaline phosphatase. Increased levels of substrates of this enzyme are found: phosphoethanolamine in urine and pyridoxal phosphate in serum. Patients show defective bone mineralization, which results in severe deformities of limbs, thorax and skull and dental abnormalities (loss of teeth and caries). The disease is classified in four age-related forms: perinatal, infantile, childhood and adult hypophosphatasia. The perinatal form is usually lethal. There is no curative therapy. Recognition of the disease is of importance for genetic counselling.

[Congenital intestinal lymphangiectasis]. / Congenitale intestinale lymfangiëctasie.

We discuss a newborn with congenital intestinal lymphangiectasia. Primary intestinal lymphangiectasia is a rare disease which represents a congenital disorder of mesenteric lymphatics and is associated with typical clinical signs. The diagnosis can be made on the basis of the typical histological findings in the endoscopic biopsies, the laboratory findings and the radiographic findings. Treatment is palliative by introduction of medium chain triglycerides and by restricting the dietary fat intake. Substitution therapy may be necessary. The longer-term prognosis appears to be good.

Schilder's diffuse sclerosis: case study with three years' follow-up and neuro-imaging.

Schilder's diffuse myelinoclastic sclerosis, a rarely described disease in childhood, was diagnosed in the case of a 6-year-old girl with subacute cerebral disease. CT-scanning showed asymmetric rim-enhancing lesions within the cerebral white matter. Spontaneous clinical improvement occurred prior to corticosteroid treatment. Follow-up by CT and MRI for three years showed the development of stable amyelinic lesions. Improvement in motor control and in electrophysiological recordings contrasted with an arrest in neuropsychological development. The differential diagnosis and the prognostic implications of this disease are stressed.

Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis.

Clinical and biochemical data are presented on eight children with adenylosuccinase deficiency. This newly discovered inborn error of purine metabolism is characterized by an accumulation in body fluids of succinyladenosine (S-Ado) and succinylaminoimidazole carboxamide riboside (SAICA riboside), the dephosphorylated derivatives of the two substrates of adenylosuccinase. Six living children (three boys and three girls) and one deceased sibling displayed severe psychomotor retardation. Epilepsy was documented in five cases, autistic features in three, and growth retardation associated with muscular wasting in a brother and sister. In the cerebrospinal fluid, plasma and urine of these patients, the S-Ado/SAICA riboside ratio was between 1 and 2. In striking contrast, the eighth patient (a girl) was markedly less mentally retarded. Most noteworthy, the S-Ado/SAICA riboside ratio in her body fluids was around 5, suggesting that her milder psychomotor retardation was causally linked to this higher ratio. Adenylosuccinase deficiency was demonstrated in the liver of all seven living children, in the kidney of three patients in whom the enzymatic activity was measured, and in the muscle of three patients, including the two with muscular wasting. In fibroblasts of the six severely retarded patients, adenylosuccinase activity was reduced to approximately 40% of normal; in the patient with the higher S-Ado/SAICA riboside ratio, it reached only 6% of normal. The clinical heterogeneity of adenylosuccinase deficiency justifies systematic screening for the enzyme defect in unexplained neurological disease.

Myelodysplastic syndromes in childhood: three case reports.

Three children with myelodysplastic syndromes (MDS) are described following the diagnostic criteria proposed by the FAB-cooperative group. Two of the children were of Turkish origin. Two cases fit the criteria for 'refractory anaemia with excess of blasts in transformation'. The other one is most consistent with 'chronic myelomonocytic leukaemia'. The patients received 'ANLL type' induction. One died during induction, two were grafted, of whom one survives.

Acute lymphopenia, stress, and plasma cortisol.

Plasma cortisol levels were determined in 51 children on admission to hospital for a variety of acute illnesses which were associated with a lymphopenia, and again when the lymphocyte count had returned to normal. The ratio cortisol level/lymphocyte count was much higher in the acute phase of the illness than later when the lymphocyte count had returned to normal. It is concluded that the lymphocyte count is a useful means of detecting an acute stress condition, and the time of return of normal plasma cortisol levels.