Biomedical subjects
Publications and source records attributed to G Kale.
The case of an 8-year-old boy who had two separate gangrenous intestinal segments with perforations during the early course of polyarteritis nodosa is presented.
Explore the source record for details and available documents.
Congenital insensitivity to pain with anhidrosis is a rare disorder. Its primary clinical features include congenital analgesia, which leads to self-mutilation; inability to sweat, which leads to defective thermoregulation; and mental retardation. A five-year-old boy with consanguineous parents and no family history of the disorder presented with ulcerating lesions on both knees and elbows. His family had discovered the lack of sensation to pain and anhidrosis. Physical examination revealed ulcers on both knees and elbow, self-mutilation of the tongue, fingers, and toes. Sensation to touch was intact and lacrimation was normal. Moderate mental retardation and analgesia were noted in an otherwise normal neurologic examination. The results of electromyographic examination were normal and the application of pilocarpine showed anhidrosis. A skin biopsy specimen was also examined.
An 8-year-old boy had nausea and vomiting associated with nystagmus, ataxia, and dysarthria of acute onset. Three years later he had a mass in the anterior mediastinum as a result of Hodgkin disease of mixed cellularity. This association of paraneoplastic cerebellar degeneration with Hodgkin disease has been described in adults.
Acyclovir has become the drug of choice for prevention of visceral dissemination of Varicella-zoster virus infections in immunocompromised individuals. This article describes a 6-year-old girl taking cytotoxic therapy and radiotherapy for treatment of Hodgkin lymphoma who developed cutaneous varicella infection. Despite the early administration of acyclovir a fatal varicella pneumonia occurred and she died on the 4th day of hospitalization. Since the resistance is inducible, the increase of unresponsiveness to acyclovir in immunocompromised hosts with varicella infection is a potential risk that can cause to increase in fatalities in these patients.
Occidental type cerebromuscular dystrophy (OCMD) forms a substantial distinct group within congenital muscular dystrophy (CMD). These patients invariably present with amyotrophy, multiple joint contractures, facial muscle involvement, normal or nearly normal intelligence, leukodystrophic appearance on CT scan, and dystrophic changes in muscle.
Endomyocardial biopsy studies in adults have demonstrated the usefulness of this method. It is possible that studies will be more productive in determining the etiology and clinical status in patients with clinically diagnosed myocardial diseases. A prospective study conducted over 16 months included 17 children, aged 14 months to 18 years, with the diagnosis of dilated, restrictive cardiomyopathy and myocarditis. In 16 patients right, and in 1 patient left heart endomyocardial biopsies were performed. The specimens were evaluated by light and electron microscopy. There were no serious complications after the procedure. In 1 of 17 children histology showed no myocardial tissue. Electron microscopy evaluations were currently available in 9 patients. Endomyocardial biopsy findings were found to be diagnostic in 41.2%, helpful in 29.4% and of no help in 29.4% of patients. In conclusion, endomyocardial biopsy technique is highly sensitive in children with myocardial disorders. In future it will be the major diagnostic tool for invasive but safe detection of myocardial disease.
Two patients with phenylketonuria and scleroderma-like skin lesions are presented. Since scleroderma is a rare collagen disease of childhood, the occurrence of these two disorders in the same patient does not seem to be coincidental but raises the possibility of a causal relationship. Improvement in the skin lesions of the patients after the commencement of a low-phenylalanine diet supports this hypothesis.
Gastric teratoma is a very rare benign tumor. Fifty-three cases, only two of which were females, have previously been reported. This report concerns two cases of teratoma arising from stomach. One of them is the third female case described in the literature.
Explore the source record for details and available documents.
Cerebral CT scan abnormalities have been seen to be afflicted with some cases of classic occidental type congenital muscular dystrophy (CMD) with normal or borderline intelligence without neurological abnormality. A case is presented with early hypotonia, joint contractures, muscle biopsy features of CMD, normal intelligence and diffuse white matter hyperlucency on CT scan. Every CMD case should be screened with cerebral CT and magnetic resonance (MRI) scans to reach more aspects of this heterogenous disorder.
Explore the source record for details and available documents.
Congenital muscular dystrophy (CMD) is a heterogenous group of disorders. In the majority of cases the intelligence is preserved, which comprises the classic "occidental" (type 1) form. This type appears to be prevalent in the west. We report a five-case series in Turkey, confirming its geographical distribution.
The case of a 9 year old boy with acute renal failure and myocarditis as complications of mumps is reported. The cardiac rhythm and conduction disorders which appeared after admission were refractory to treatment and the outcome was fatal. On necropsy, minimal interstitial nephritis and myocarditis were seen, confirming the clinical diagnosis.
Explore the source record for details and available documents.
Explore the source record for details and available documents.