Biomedical subjects

T Coşkun

Publications and source records attributed to T Coşkun.

89 records · Page 5Linked to original sources

PubMedDate not supplied

Hypophosphatasia in a newborn infant.

Infantile type hypophosphatasia, an autosomal recessive disease with severe clinical manifestations, is characterized biochemically by subnormal activities of circulating alkaline phosphatase. In this report, we presented a five-day-old male with this rare disorder. His parents were first cousins, and he was first seen for jaundice. He had soft calvaria, large fontanel, extremely wide cranial sutures, low-set ears, a depressed nasal bridge, funnel chest, and short and bowed distal limbs. Roentgenographic studies showed widened sutures and poor ossification of the skull, bowing of the femora and slight modeling defects in the long bones. A low serum alkaline phosphatase activity led us to measure excretion of phosphoethanolamine and found it to be increased.

Alkaline Phosphatase↗

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

Frequency of the IVS-10nt546 mutation in 44 Turkish phenylketonuria patients.

The newly identified point mutation in intron 10 of the phenylalanine hydroxylase gene activates a cryptic splice site and results in an in-frame insertion of nine nucleotides between exons 10 and 11 of the processed transcript. This mutation is observed in association with haplotype 6 of phenylketonuria chromosomes. Since in Turkey, haplotype 6 is observed in 40 percent of mutant phenylketonuria alleles, the aim of this study was to establish the incidence of this particular mutation. Forty-four classical phenylketonuria patients were studied and the frequency of the intron 10 splicing mutation was determined to be 31 percent.

Alleles↗

PubMedDate not supplied

Aase-Smith syndrome: report of a new case with unusual features.

A new case of Aase-Smith syndrome has been reported with additional findings, including microcephaly, axial rotation of the kidneys, preaxial polydactyly and leukopenia. The patient had almost complete clinical remission with corticosteroid treatment. The findings in this case suggest that it is very difficult to differentiate Aase-Smith syndrome from Blackfan-Diamond and Fanconi's anemias as well as from those cases reported by Murphy and Lubin, and Jones and Thompson.

Anemia, Aplastic↗

PubMedDate not supplied

I-cell disease. A case report and review of the literature.

A four-month-old female infant having developmental delay, coarse facial features and dysostosis multiplex is reported with a special emphasis on the differential diagnosis among I-cell disease (ICD). Hurler syndrome and GM1 gangliosidosis. The lysosomal enzyme studies in cultured skin fibroblasts and serum sample of the patient certified the diagnosis of ICD. Foamy cell infiltration of some organs, including the lungs, and microgyria formation were also noted. Genetic counselling was provided and prenatal diagnosis was offered to the couple to detect ICD in the next pregnancy.

Fatal Outcome↗

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

Is L-carnitine protective in hypoxic cerebral edema in newborn mice?

The value of carnitine in the prevention of cerebral edema due to acute severe hypoxia in 38 newborn mice was studied. Twenty-nine animals received normal saline (0.25 ml) or carnitine (16 mmol/kg) intraperitoneally, thirty minutes before exposure to 0% oxygen in inspired air for two minutes. Nine mice received no drug and were exposed to room air. After hypoxic insult, brain water content was measured and was found to be similar in all groups. These findings suggest that carnitine pretreatment does not prevent brain edema associated with cerebral hypoxia in newborn mice.

Acute Disease↗

PubMedDate not supplied

Type I glycogenosis with renal tubular dysfunction (presentation of two cases).

Two patients with hepatic glycogenosis associated with Fanconi syndrome are presented. Both patients were treated with a neutral phosphorus solution, an oral alkaline solution, cholecalciferol and uncooked cornstarch. The proximal renal tubular functions were corrected in the patient who used cornstarch properly, which may indicate a causal relationship between Fanconi syndrome and glycogenosis.

Administration, Oral↗

PubMedDate not supplied

Neurophysiological studies of patients with classical phenylketonuria: evaluation of results of IQ scores, EEG and evoked potentials.

Neurophysiological studies were conducted in 42 patients with classical phenylketonuria. The results of the intelligence quotient scores, electroencephalogram, visual evoked potentials and brain-stem auditory evoked potentials were evaluated. When compared with the controls, the subjects demonstrated a significant prolongation in VEP P1 and BAEP I-V interpeak latencies and an increase in VEP N1P1 amplitudes. No relationship was found between these pathological responses and metabolic control. However, the observation of normal intelligence quotient scores in 14 out of 18 patients who displayed a pathological prolongation in P1 latencies led us to the conclusion that evoked potentials may have a significant role in the determination of neurophysiological defects and that even cases with good metabolic control may have some obscure neurophysiological dysfunction which should be evaluated more carefully.

Brain Stem↗

PubMedDate not supplied

Superior mesenteric artery syndrome. A case report.

A case of superior mesenteric artery syndrome is reported. A 16-year-old boy with bilious vomiting for six months and weight loss within the previous year is presented. In this symptomatic period, he was fed many dietary formulations. This conservative management failed. Physical examination revealed that he was malnourished. The diagnosis was made by means of an upper gastrointestinal barium study performed through a tube. Gastrojejunostomy was preferred over duodenal mobilization because he had a markedly dilated stomach and enlarged pylorus. The postoperative course was satisfactory.

Adolescent↗

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

Leprechaunism in two Turkish patients.

We report two cases of Leprechaunism with the classical features. The first case had hyperglycemia and severe hyperinsulinemia. The postmortem examination of the second child revealed enlargement of both ovaries, islet cell hyperplasia in the pancreas, and cholestasis and paucity of bile ducts in the liver. Cystic changes were noted in the ovaries, and the kidneys contained a few small cortical cysts. Both patients died at early ages.

Abnormalities, Multiple↗

PubMedDate not supplied

Biliary enteric fistulas.

Thirty-one patients with biliary enteric fistula who were operated on over a 19-year period (1976-1994) with an incidence of 0.74% in all biliary tract operations were reviewed retrospectively to identify etiologic factors, types of fistulas, signs and symptoms, methods of diagnosis, management and prognosis of the cases. Most common symptoms were abdominal pain, nausea, vomiting and jaundice. Two patients had gallstone ileus. The majority of the patients had severe concomitant medical illnesses. The exact preoperative diagnosis of a biliary enteric fistula was established in only five (16%) patients. In 81% of the cases fistula was secondary to chronic calculous biliary tract disease. Postoperative complications included wound infection in six (19%), biliary fistula in two (6%) and erosive gastritis in one (3%) patient. Two patients died of intra-abdominal sepsis and two of cardiac failure, with an operative mortality of 13%. Early elective cholecystectomy is recommended to avoid complications of chronic calculous cholecystitis such as bilioenteric fistulas and their increased mortality and morbidity.

Adult↗

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

Recurrent meningitis associated with congenital paravertebral dermal sinus tract.

Recurrent meningitis is a rare but important event that needs to be searched for a predisposing factor. Congenital dermal sinuses occurring in the midline are among the etiological factors. Here, an 18-month-old boy with three attacks of recurrent meningitis due to a paramedian dermal sinus tract is presented. Klebsiella was the cultured causative agent. The lesion was suspected on physical examination and demonstrated by lumbosacral magnetic resonance imaging. To the best of our knowledge, this is the first case in English-language literature of the paravertebrally located dermal sinus tract resulting in recurrent meningitis. Therefore, a careful physical examination, especially including the paravertebral region beside the midline, is essential. Magnetic resonance imaging is a non-invasive descriptive method in the evaluation of congenital dermal sinus tracts.

Causality↗

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↗