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1/8. DOOR syndrome: report of three additional cases.

    Three new cases of DOOR syndrome are described in unrelated Brazilian children. One of these cases also has a congential cardiac defect. None of the cases has organic acid abnormalities and they can therefore be classified as Type II. ( info)

2/8. cerebrospinal fluid pterins and folates in Aicardi-Goutieres syndrome: a new phenotype.

    OBJECTIVE: To describe three unrelated children with a distinctive variant of Aicardi-Goutieres syndrome (AGS) characterized by microcephaly, severe mental and motor retardation, dyskinesia or spasticity, and occasional seizures. RESULTS: neuroimaging showed bilateral calcification of basal ganglia and white matter. CSF glucose, protein, cell count, and interferon alpha were normal. Abnormal CSF findings included extremely high neopterin (293 to 814 nmol/L; normal 12 to 30 nmol/L) and biopterin (226 to 416 nmol/L; normal 15 to 40 nmol/L) combined with lowered 5-methyltetrahydrofolate (23 to 48 nmol/L; normal 64 to 182 nmol/L) concentrations in two patients. The absence of pleocytosis and normal CSF interferon alpha was a characteristic finding compared to the classic AGS syndrome. Genetic and enzymatic tests excluded disorders of tetrahydrobiopterin metabolism, including mutation analysis of gtp cyclohydrolase feed-back regulatory protein. CSF investigations in three patients with classic AGS also showed increased pterins and partially lowered folate levels. CONCLUSIONS: Intrathecal overproduction of pterins is the first biochemical abnormality identified in patients with AGS variants. Long-term substitution with folinic acid (2-4 mg/kg/day) resulted in substantial clinical recovery with normalization of CSF folates and pterins in one patient and clinical improvement in another. The underlying defect remains unknown. ( info)

3/8. A Japanese adult case of cystic fibrosis causing bone demineralization.

    cystic fibrosis is an inherited, multisystem disorder characterized by an abnormality in exocrine gland function. It leads to chronic pulmonary disease in most cases and pancreatic insufficiency in 85 percent of patients. Although this disease is not uncommon in Caucasians, it has been considered very rare among Japanese. The majority of patients are diagnosed in infancy or childhood. The patient in this case report was a 45-year-old Japanese man who had not been diagnosed as having cystic fibrosis. This patient had recurrent episodes of pulmonary infection that started in childhood, and plain films of the chest showed increased interstitial markings, hyperaeration, and bronchiectasis. CT of the upper abdomen showed a generally enlarged pancreas with complete fatty replacement. serum and urine pancreatic enzyme levels were low, suggesting pancreatic insufficiency. Repeated sweat tests were positive. A roentgenologic skeletal survey showed general demineralization, which may be multifactorial. In this case, it was concluded that vitamin d deficiency caused by vitamin D malabsorption and/or insufficient sunlight exposure was mainly responsible for the demineralization and that chronic respiratory acidosis might also be partially responsible. ( info)

4/8. Coeliac disease, unilateral occipital calcifications, and drug-resistant epilepsy: successful lesionectomy.

    PURPOSE: To draw attention to the triad of coeliac disease (CD), occipital calcifications, and drug-resistant epilepsy, with focus on the outcome of epilepsy surgery. methods: We describe a male patient who despite a diagnosis of CD from the age of 9 did not comply with the gluten-free diet. At the age of 11 he developed simple and complex partial seizures with visual symptoms, anxiety, and ambulatory automatisms. His epilepsy appeared to be drug resistant, and after having tried nine antiepileptic drugs (AEDs), alone or in combinations, he underwent a presurgical evaluation at the age of 30. Interictal standard electroencephalograms (EEGs) disclosed frequent biparieto-occipital epileptiform discharges. Computed tomography showed cortical-subcortical punctate calcifications in the right parieto-occipital region, where his seizures seemed to start, according to ictal EEG registrations from intracranial strip electrodes. RESULTS: At the age of 31 he underwent epilepsy surgery. A 5 x 6 cm large area of the right parieto-occipital region was resected, including the area with calcifications. Except for a few short-lasting episodes of anxiety (simple partial seizures?) he has now been seizure-free for 12 years. AEDs were withdrawn 5 years ago. Postoperatively he was left with an upper left-sided quadrant anopsia, which is not bothering him. CONCLUSIONS: In patients with CD, unilateral occipital calcifications, and drug-resistant epilepsy, epilepsy surgery should be considered, as a lesionectomy might be very successful. ( info)

5/8. Dental management for children with chronic renal failure undergoing hemodialysis therapy.

    patients with chronic renal failure who are undergoing hemodialysis therapy demonstrate problems of significant importance for dental treatment. A case is presented in which secondard hyperparathyroidism, resulting from renal failure and hemodialysis, was noted in a child. Other relationships between renal failure, hemodialysis, and dental care were also presented. ( info)

6/8. oral manifestations of secondary hyperparathyroidism related to long-term hemodialysis therapy.

    patients on long-term hemodialysis therapy may develop secondary hyperparathyroidism with oral symptoms. As the life expectancy of the dialysis patient increases, the dentist is seeing these manifestations with increasing frequency. A review of the subject is presented along with a case illustrating dramatic roentgenographic changes in a patient who was placed on hemodialysis when the technique was in its infancy. ( info)

7/8. Bone mineral analysis using single-energy computed tomography.

    We present a new method for evaluating in vivo changes in bone mineralization in the peripheral skeleton, using computed tomography (CT). A set of bone mineralization indices are generated from numerous CT images of the patient's distal radius. The cross-sectional anatomy displayed by the CT scan allows for separate evaluation of the cortical and trabecular bone. Correction for possible drift of the CT number scale (Hounsfield scale) is achieved by scanning standard solutions of dipotassium hydrogen phosphate simultaneously with the forearm. Preliminary data indicate that this is a precise method for evaluating in vivo changes in bone mineralization. ( info)

8/8. Physical and psychological complications after intestinal bypass for obesity.

    Cognitive changes, depression, arthralgia and dermatitis developed in a 33-year-old woman 5 years after a jejunoileal shunt for massive obesity, The dermatitis and low serum carotene and vitamin C values suggested vitamin deficiencies, The serum magnesium concentration also was low. Vitamin and mineral replacement led to amelioration of the physical and psychological symptoms; the improvement has been maintained at 18-month follow-up. The favourable changes were documented with the Wechsler adult intelligence Scale, the minnesota Multiphasic personality inventory and test performance ratings. It is concluded that the surgical procedure caused vitamin and magnesium deficiencies and that these resulted in the patient's symptoms. ( info)

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