A 12 year old boy was admitted to hospital with fever, general malaise, cough and peripheral edema. The patient who have had rheumatic heart diseases-mitral insufficiency was found to be in congestive cardiac failure. In blood cultures Staphylococcus aureus and Alpha-hemolytic streptococcus grew. The regimens of Cephalothin-Gentamicin, Methicillin-Tobramicin, to which the organism were sensitive were given intravenously. On these therapy the patient continued to have fever. He was put on Trimethoprim-Sulfomethoxazole intramuscularly. He became afebril for the first time. After two weeks fever recurred. In spite of medical treatment, the infection persisted and the indication for surgery was considered. Mitral valve replacement with a Starr-Edwards prosthesis was carried out. Postoperatively, the patient was treated with TMP-SMZ. For the past 10 months the patient has remained afebril and without evidence of congestive heart failure.

Child↗

PubMed1984

[A cerebellar abscess caused by anaerobic and aerobic (mixed) microorganisms].

A 15 year old boy was admitted to hospital with five days history of fever, headache, vomiting and otorrhea. Findings on physical examination included high fever, purulent drainage from right ear, nuchal rigidity, Brudzinski's and Kernig's signs. Laboratory finding was polymorphonuclear leukocytosis. Computerized tomography (CT) of his brain was normal. A lumbar puncture disclosed purulent CSF. Chloramphenicol and Penicillin G were given intravenously as treatment for the meningitis. After five days of this therapy he continued to be febrile and nuchal rigidity, Brudzinski's and Kerning's signs increased. The second CT demonstrated the presence of an abscess in the cerebellum. The abscess was aspirated during mastoidectomy. In the cultures of the aspiration material Bacteroides species and gram positive micrococci grew out. Metronidazole, 500 mg qid per oral, was added to the therapy. During treatment, his condition was evaluated with serial computerized tomography scans of his brain and these studies showed progressive decrease in the size of the lesion. Metronidazole and antibiotics therapies were continued 45 days. The patient made an uneventful recovery.

Adolescent↗

PubMedDate not supplied

Fine mapping of the human biotinidase gene and haplotype analysis of five common mutations.

Biotinidase deficiency is an autosomal recessive defect in the recycling of biotin that can lead to a variety of neurologic and cutaneous symptoms. The disease can be prevented or effectively treated with exogenous biotin. The biotinidase locus (BTD) has been maped to 3p25 by in situ hybridization. The gene has been cloned, the coding region sequenced, the genomic organization determined, and a spectrum of mutations has been characterized in more than 90 individuals with profound or partial biotinidase deficiency. We have conducted haplotype analysis of 10 consanguineous and 39 nonconsanguineous probands from the United States and 8 consanguineous probands from Turkey to localize BTD with respect to polymorphic markers on 3p and to investigate the origins of five common mutations. The inbred probands were homozygous for overlapping regions of 3p ranging in size from 1.1 to 80 cM which were flanked most narrowly by D3S1259 and D3S1293. Radiation hybrids and haplotype analysis of markers within this region suggest that BTD is located within a 0.1-cM region flanked by D3S3510 and D3S1286. The radiation hybrid data suggest that the BTD gene is oriented 5' to 3' between the centromere and the 3p telomere. Association studies indicate that the gene is closer to a third locus D3S3613 than D3S3510, two markers which cannot be resolved by existing linkage data. The BTD locus and D3S3613 must therefore lie between D3S3510 and D3S1286. Comparison of haplotypes reveals evidence for possible founder effects for four of the five common mutations.

Adult↗

PubMedDate not supplied

Guanosine triphosphate cyclohydrolase I deficiency: a rare cause of hyperphenylalaninemia.

Tetrahydrobiopterin (BH4) deficiencies are a heterogeneous group of disorders caused by a defect in two of the three enzymes involved in its biosynthesis or in the two recycling enzymes. Except for the deficiency of dehydratase, an enzyme catalyzing a reaction in the recycling pathway, all other variants of BH4 deficiency are characterized by developmental delay, progressive neurological deterioration, hypokinesis, drooling, swallowing difficulty, truncal hypotonia, increased limb tone, myoclonus and brisk deep tendon reflexes. A deficiency of guanosine triphosphate cyclohydrolase I (GTPCH), the first enzyme in the biosynthetic pathway of BH4, is described in a 14-month-old male infant with hyperphenylalaninemia, developmental delay, hypertonia of the extremities, seizures, feeding difficulties, and vomiting. Urinary pteridine screening revealed very low levels of neopterin and biopterin which was highly suggestive of GTPCH deficiency. Low cerebrospinal fluid concentrations of 5-hydroxyindoleacetic acid (5HIAA) and homovanillic acid concentrations, together with no detectable neopterin and decreased concentrations of biopterin and folate, agreed with the diagnosis of GTPCH deficiency. Subsequently measured neopterin and biopterin synthesis in cytokine-stimulated skin fibroblasts confirmed GTPCH deficiency, albeit indirectly. The patient showed marked improvement on a low-protein low-phenylalanine diet with neurotransmitter precursor administration. The favorable outcome in this patient clearly shows that not only newborns with elevated phenylalanine levels but also older children with neurological signs and symptoms should be screened for a BH4 deficiency in order to have maximum benefit of the treatment.

Antioxidants↗

PubMedDate not supplied

Newborn PKU screening in Turkey: at present and organization for future.

At present, pkenylketonuria screening is a national child health program in Turkey which is carried out collaboratively by the Ministry of Health and three University Children's Hospitals in Ankara, Istanbul and Izmir. Since 1986 the number of cities included in the screening program has gradually increased, now and it covers all the metropolises the country. A total of 383 babies were found with persistent hyperphenylalaninemia (1:4,172) among 1,605,582 babies screened by the Guthrie test at the Hacettepe Screening Center in Ankara. By taking into account pretreatment phenylalanine levels and phenlyalanine tolerances at five years of age, the numbers of classical and mild-moderate phenylketonuria and mild hyperphenylalaninemia cases were 216, 102 and 58, respectively. The major problems encountered in the screening program and in management of the detected cases were unsatisfactory sample collection, early discharge from maternity hospitals, difficulties in reaching some detected cases, and noncompliance with dietary therapy due to illiterate parents or to lack of social insurance. To screen and treat all newborns for phenylketonuria and to include at least hypothyroidism in the screening program, there is a need for a more disciplinary intersectoral approach than exists at present.

Humans↗

PubMedDate not supplied

Iminoglycinuria: a benign type of inherited aminoaciduria.

The diagnosis of iminoglycinuria was established in two patients on the basis of increased urinary excretion of proline, hydroxyproline and glycine in the presence of normal plasma concentrations of these respective compounds. Routine metabolic screening was performed in these infants in order to find the cause for the developmental delay observed in one infant and the siblings deaths noted in the family of the other. These two patients gave further support to the previous suggestion that renal iminoglycinuria is a benign disorder with no recognizable clinical pattern. Its detection, therefore, requires screening programs or amino acid studies.

Developmental Disabilities↗

PubMedDate not supplied

Inborn errors of biotin metabolism. Clinical and laboratory features of eight cases.

There are two genetically determined biotin-dependent disorders. The first is holocarboxylase synthetase (HCS) deficiency and the second biotinidase deficiency. HCS catalyzes the reaction in which active holocarboxylases are synthesized from inactive apocarboxylases. Biotin is required for this synthesis. Biotinidase facilitates the release and recycling of free biotin. Deficiency of either HCS or biotinidase is characterized by certain neurological, cutaneous and biochemical abnormalities. In this paper, six patients with biotinidase and two patients with HCS deficiency are described. Among the most common neurological findings were hypotonia (6/8), seizures (2/6) and optic atrophy (2/8). Dermatitis and conjunctivitis were present in three and four patients, respectively. All patients had low blood pH bicarbonate levels. Serum lactate was increased in all and pyruvate in six cases. Two patients with biotinidase deficiency presented earlier than the mean age of onset previously reported in the literature. Detection of eight cases during the past few years at a single metabolic unit indicates that biotinidase deficiency is not rare in Turkey, where the frequency of some other metabolic disorders has also been reported to be high. We suggest that biotin-dependent disorders should be considered in all infants with neurological symptoms, particularly those with jerks, even if other signs such as alopecia, seborrheic dermatitis and acidosis are not evident, regardless of the age of presentation.

Age of Onset↗

PubMedDate not supplied

Classical phenylketonuria associated with Goldenhar's syndrome. A case report.

Classical phenylketonuria (PKU) and Goldenhar's syndrome were diagnosed in a six-month-old male infant who was referred to Hacettepe Children's Hospital for evaluation of developmental delay. There had been epibulbar dermoids in his left eye, strabismus, bilateral multiple preauricular appendices, malar hypoplasia, micrognathia, hemifacial microsoma and high palatal vault. In addition to congenital anomalies and developmental delay, blond hair, fair skin and unusual urinary odor were noted. Ferric chloride test on his urine sample was positive, and the plasma phenylalanine level was high (34 mg/dl). Based on these clinical and biochemical findings, the diagnoses of phenylketonuria and Goldenhar's syndrome were made. To our knowledge, this is the first case with PKU and Goldenhar's syndrome.

Goldenhar Syndrome↗

PubMedDate not supplied

Leprechaunism (Donohue's syndrome): a case report.

Features of leprechaunism, including low-birth weight, a grotesque elfin face with clubbed nose, hirsutism, large low-set ears, enlarge external genitalia, distended abdomen with emaciated extremities, and growth and motor retardation were present in a 3-month-old girl. Because of parental consanguinity in this patient, a recessive mode of inheritance seems likely.

Abnormalities, Multiple↗

PubMedDate not supplied

Hypophosphatemic vitamin-D resistant rickets associated with epidermal nevus syndrome. A case report.

Epidermal nevus syndrome is characterized by congenital anomalies affecting multiple body systems, especially the skin, skeleton and central nervous system. A form of rickets/osteomalacia that is markedly resistant to treatment with vitamin D has been reported in children with this syndrome. We report the clinical and laboratory observations in a child with epidermal nevi and severe hypophosphatemic rickets/osteomalacia.

Adolescent↗

PubMedDate not supplied

Acute pancreatitis in a patient with glutaric acidemia type II.

We describe a two-year-old girl who presented with coma following an upper respiratory tract infection. Nonketotic hypoglycemia, metabolic acidosis and mild hyperammonemia were detected. The urinary organic acid profile was consistent with glutaric aciduria type II. Pancreatitis was diagnosed at autopsy. Although pancreatitis has been described in a number of inborn errors of metabolism including organic acidemias, to the best of our knowledge this is the first report of acute pancreatitis occurring in glutaric acidemia type II. It was stressed, therefore, that this complication should be searched for in organic aciduria patients, and the measurement of plasma amylase and lipase levels should be added to the battery of laboratory investigations in such cases.

Amino Acid Metabolism, Inborn Errors↗

PubMedDate not supplied

Isovaleric acidemia. Clinical presentation of 6 cases.

A retrospective study is reported on the clinical outcome of six patients with isovaleric acidemia (IVA) diagnosed during the last 20 years at the Metabolic Unit of Hacettepe University Children's Hospital. IVA is only one of many inborn errors of metabolism that may have an acute or a late, intermittent presentation. Generally, the diagnosis cannot be made by clinical or routine clinical chemical investigations, although the odor of "sweaty feet" is a presenting symptom. An unusual urinary odor, which was present in all of our patients, should lead to a thorough screening for organic acidemia at any age. Here, we have reported six patients with IVA. Two pairs were siblings. All, except one patient, had positive family history of sibling deaths and all parents were related. In our series, only two patients presented during the neonatal period and both died during the acute crisis. The other four patients presented after the neonatal period and were categorized as having a chronic intermittent form of IVA. Two cases showed normal development despite repeated metabolic decompensations; one patient was diagnosed during the first attack, but he was mentally and motor retarded. The other one died during the metabolic crisis. The presented cases illustrate that IVA can be managed successfully once the diagnosis is made. But lack of early recognition may lead to severe psychomotor retardation or death.

Acute Disease↗

PubMedDate not supplied

Citrullinemia. Clinical experience with 23 cases.

A retrospective study was performed on the clinical outcome of 23 patients with citrullinemia diagnosed during the last 20 years in our clinic. The study group consisted of 13 patients with the neonatal form of the disease, four patients with the subacute form, five patients with the late-onset form and one with the asymptomatic form. All patients were treated with natural protein restriction, sodium benzoate and arginine administration. Almost all of the neonatal-onset patients were treated with exchange transfusions and/or peritoneal dialysis. Fourteen patients died: 11 with the neonatal form, one with the subacute form, and two with the late-onset form. The general neurological outcome of the patients who were alive was not satisfactory. Despite these results, it was concluded that the prognosis and quality of life of patients with citrullinemia might be improved with early diagnosis and appropriate therapy.

Adolescent↗