Cases reported "Calcinosis"

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1/88. Adrenal calcification in children: a case report.

    Unilateral adrenal calcification was encountered incidentally in a 9-year-old boy during evaluation of enuresis. He was a large baby at birth, and perinatal history was suggestive of difficult labor. The case has been discussed through the possible causes of adrenal calcification and the management of these children. Once the diagnosis of idiopathic adrenal calcification is made in light of detailed perinatal history, biochemical investigations, and roentgenologic examinations, these children can be observed by control evaluations with regular intervals.
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2/88. Aicardi-Goutieres syndrome: a genetic microangiopathy?

    Aicardi-Goutieres syndrome (AGS) (McKusick 225750) is an autosomal recessive disease with onset in the 1st year of life, resulting in progressive microcephaly, calcification of cerebral white matter, thalamus and basal ganglia, generalized cerebral demyelination and a chronic low-grade CSF lymphocytosis, without evidence of infection. We report the autopsy of a patient who died with this disorder at the age of 17 years. Findings were severe microencephaly, diffuse but inhomogeneous cerebral white matter loss with associated astrocytosis, calcific deposits in the white matter, thalami and basal ganglia. neocortex and cerebellar cortex were affected by wedge-shaped microinfarctions. Small vessels showed calcification in the media, adventitia and perivascular spaces. These findings are similar to some previous publications that in retrospect may have been AGS, but this is the first reported cerebral microangiopathy in which the diagnosis AGS was made during lifetime. This report provides evidence that microangiopathy plays a significant role in the pathogenesis of AGS.
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keywords = cortex
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3/88. Adrenal endothelial cyst with massive central calcification.

    A 55-year-old woman was treated for a rare case of adrenal endothelial cyst that was detected incidentally during management of abdominal pain. Computed tomography of the tumor displayed massive central calcification and a fluid-fluid level by intracystic hemorrhage. magnetic resonance imaging showed an intracystic papillary part with calcification. After surgery, the tumor was diagnosed as an angiomatous type of adrenal endothelial cyst.
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4/88. Encephalocraniocutaneous lipomatosis (Fishman syndrome): a rare neurocutaneous syndrome.

    Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital neurocutaneous syndrome comprising unilateral cranial lipomas, lipodermoids of the eye and brain abnormalities. A 3-year-old boy who presented at birth with a scalp lipoma and an ipsilateral epibulbar lipodermoid is described. Infantile spasms developed at 9 months of age and cerebral imaging showed thickened and calcified cortex at the right occiput and hemiatrophy of the right hemisphere. These features were consistent with ECCL. Most children with ECCL have significant developmental delay, but we have found that control of seizures was associated with a significant improvement in developmental outcome.
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5/88. Renal venous thrombosis with calcification and preservation of renal function.

    Two neonates were found on US to have branching linear calcification in the renal parenchyma, right sided in one and bilateral in the other. CT confirmed the presence of branching calcification in the kidneys and demonstrated calcified thrombus in the inferior vena cava in both babies. Antenatal detection of adrenal haemorrhage in one baby and presence of calcification at the age of 3 days in the other indicate that thrombosis probably occurred before birth. The kidneys remained normal in size, and uptake of 99mTc-labelled dimercaptosuccinic acid (99mTc-DMSA) was normal on follow-up examination. The presence of branching calcification and normal renal size probably indicates good prognosis for renal function in neonates in whom renal venous thrombosis is found and may indicate prenatal thrombosis.
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6/88. Case report: Calcifying fibrous pseudotumour of the adrenal gland.

    Calcifying fibrous pseudotumour is a distinct pathological entity usually occurring in the soft tissue of the extremities, trunk, axilla, pleura, mediastinum and peritoneum. This report describes the hitherto unreported occurrence of this tumour of the adrenal gland in a 10-year-old girl whose imaging findings closely resembled a neuroblastoma. This entity is a potential pitfall in diagnosing adrenal neuroblastoma.
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7/88. Ictal deafness--a report of three cases.

    Though negative phenomena like motor inhibition, blindness or aphasia are described as an ictal manifestation of seizures, ictal deafness has not been reported so far. We observed transient ictal deafness in three cases of partial seizures. One of them had seizure spread to the temporal lobe to produce a complex partial seizure. Two of them have CT-detected lesions in the left temporal/parietal area. The other one had left temporal focus on EEG with a normal imaging study. The mechanism of such ictal negative phenomena is unclear. An epileptic focus around the primary auditory cortex, dampening its receptive ability may manifest as cortical deafness.
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8/88. Case report: plasma adrenalin in a child with ketotic hypoglycemia and calcifications of the suprarenal glands.

    Urinary excretion of adrenalin has been reported to be reduced during insulin-induced hypoglycemia in a significant proportion of children having ketotic hypoglycemia. By employing a sensitive double-isotope derivative technique, plasma adrenalin and plasma noradrenalin were determined in a boy 6 years 9 months old who had had ketotic hypoglycemia with intermittent hypoglycemic symptoms from the age of 10 months. Bilateral calcifications of the suprarenal glands were present. The adrenocortical function was normal. The plasma adrenalin response to hypoglycemia were practically absent, being only 4% of the value obtained in healthy children. The results were related to previous findings of a low plasma adrenalin response in patients with ketotic hypoglycemia without adrenal calcifications and support the assumption that ketotic hypoglycemia is associated with hypoadrenalinemia.
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9/88. Ewing's sarcoma family of tumor arising in the adrenal gland--possible diagnostic pitfall in pediatric pathology: histologic, immunohistochemical, ultrastructural, and molecular study.

    We present an adrenal Ewing's sarcoma family of tumor (ESFT) arising in an 11-year-old Japanese boy. Although intensive chemoradiotherapy and radical surgery were performed, the patient died of obstinate disease 1 year and 3 months after the initial presentation. The primary site (adrenal gland) with radiologic findings (with foci of calcification), high titer of serum neuron specific enolase, and sheets of monotonous primitive rounded cells on histology mostly favored neuroblastoma. However, a diagnosis of ESFT was confirmed by immunohistochemical profile, including MIC2-positivity and molecular study disclosing EWS-FLI1 chimera gene verified by direct sequencing. Recognition of adrenal ESFT and use of newly developed diagnostic techniques are required for differential diagnosis of undifferentiated small round cell tumor of the adrenal gland.
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keywords = adrenal
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10/88. Neuropathology of Raine syndrome.

    We present three cases of Raine syndrome occurring in siblings of consanguineous parents. Raine syndrome is characterised by generalised osteosclerosis with craniofacial anomalies and intracranial calcifications. So far, only nine cases have been reported, and no evaluation of the distribution and extent of the cerebral mineralisations, as well as their impact on the surrounding tissue, has been undertaken yet. In our cases, calcifications were unevenly distributed throughout the central nervous system, not associated with neuronal loss or dystrophic events and appeared mostly as single calcospherites within the neuropil with occasional confluent deposits at advanced gestational age. There was intense perifocal microgliosis around single immature calcospherites, as well as mild astrogliosis around and within the confluent lesions, in which occasional macrophages could be found. Rarely, mineralisations occurred in blood-vessel walls, mainly affecting basal ganglia. Preferential sites of calcification were parietal and occipital periventricular white matter and corpus callosum, while frontal lobes were mildly affected. The cortex, temporal lobes as well as internal capsule, brain stem, cerebellum, leptomeninges, pituitary gland and choroid plexus were devoid of mineralisations. The subcortical grey matter was moderately involved in the putamen and pallidum, mildly in the caudate nucleus and subependymal germ cell matrix and not at all in the thalamus, Ammon's horn, amygdala and substantia nigra. The distribution of mineral deposits was thus inversely correlated to regional blood circulation and capillary density, with calcifications being concentrated in more sparsely perfused areas but lacking in highly vascularised tissue. This inverse relationship between mineralisation and regional blood flow was reflected in the varying distribution of calcospherites in grey and white matter as well as in the white matter of different lobes.
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keywords = cortex
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