adrenoleukodystrophy/edema

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Ocular histopathologic studies of neonatal and childhood adrenoleukodystrophy.

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Histopathologic studies of the eyes of one patient (a boy who died at 14 years of age) with childhood adrenoleukodystrophy and two patients (girls who died at 24 and 31 months of age) with neonatal adrenoleukodystrophy showed the accumulation of the characteristic bileaflet inclusions in optic nerve

Increased intracranial pressure in adrenoleukodystrophy.

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Increased intracranial pressure developed as a terminal event in a 5-year-old boy with adrenoleukodystrophy. The CSF protein concentration was 420 mg/dL. Computed tomography showed extensive areas of decreased density in the posterior cerebral white matter. At autopsy, brain weight exceeded the

A Case of ADEM Mimicking Cerebral Adrenoleukodystrophy Based on Supratentorial MRI Findings.

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A 9-year-old male admitted for syncope also had the complains of pain and numbness in his legs and frequent falling down. There was a history of upper respiratory tract infection 10 days before. On neurologic examination, paraparesia and fall a sleep were identified. On magnetic resonance imaging,

The influence of the ground substance on the extracellular water of normal and edematous human brain: focal edema and the demyelinating diseases, including multiple sclerosis.

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The presence of a ground substance in brain provides a mechanism by which edema localized to one region of the white matter might occur without spreading diffusely into the adjacent tissues. The most common such localization is the sparing of the arcuate white matter when the deeper white matter is

The effect of saponification on the mucopolysaccharides of the ground substance of the human brain: the relation to focal edema and multiple sclerosis.

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The acid mucopolysaccharides of brain tissues are disclosed by their metachromatic staining with toluidine blue following saponification with potassium hydroxide, presumably as a result of the liberation of acid groups previously esterified. Earlier histochemical studies had disclosed the presence

Variable phenotypes in a family kindred with adrenoleukodystrophy.

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Adrenoleukodystrophy, an X-linked recessive disorder characterized by progressive demyelination of the central nervous system and adrenal insufficiency, usually manifests at 4-8 years of age. We report a 20-month-old male who presented with the sudden onset of status epilepticus and cortical

The Spectrum of MR Imaging Patterns Suggestive of Pediatric Posterior Reversible Encephalopathy Syndrome in Children With Cerebral X-Linked Adrenoleukodystrophy

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Background and purpose: Children receiving chemotherapy, or immunosuppression have an increased risk for pediatric posterior reversible encephalopathy syndrome (pPRES); pPRES is scantly described in cerebral X-linked adrenoleukodystrophy

Zellweger syndrome with unusual findings: non-immune hydrops fetalis, dermal erythropoiesis and hypoplastic toe nails.

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The peroxisomal biogenesis disorders (PBDs) comprise the Zellweger spectrum disorders (i.e., Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease) and rhizomelic chondrodysplasia punctata. Peroxisomal biogenesis disorders can be caused by mutations in any of 13 currently

Myelinoclastic diffuse sclerosis (Schilder's disease): report of a case and review of the literature.

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The clinical, neuroimaging, and neuropathologic features of Schilder's disease in a 17-year-old girl are presented and compared to 11 well-documented cases reported since 1912. The evolution of knowledge about Schilder's disease and the confusion in nomenclature are reviewed. Signs and symptoms in

Progressive spastic paraparesis and adrenal insufficiency.

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A 10-year-old boy with progressive paraparesis, personality change, and seizures had laboratory evidence of adrenal insufficiency. Pathologic study showed cerebral edema, but no loss of myelin. Notable pathologic changes were limited to the spinal cord, where the corticospinal and spinocerebellar

Morpho-functional status of the kidney after a disturbance of lymph drainage.

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The size of the renal body in convoluted parts of proximal and distal nephrons has been studied in normal dogs and after section and ligation of the efferent lymphatic vessels in 4 series of experiments (167 dogs). Observations have been made 12 h, 3 and 10-160 d after the operation. Histological,

[Several indices of the morphofunctional state of the normal kidney and kidneys following lymph drainage disruption].

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The size of the renal body in convoluted parts of proximal and distal nephrons has been studied in normal dogs and after section and ligation of the efferent lymphatic vessels in 4 series of experiments (85 dogs). Observations have been made 12 h, 3 and 10--150 days after the operation.

[Changes in kidney tissue elements after ligation of the lymphatic vessels. Role of disorders of lymph outflow after kidney transplantation].

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The effect of sectioning the nephric lymphatic vessels on the functional morphology of its tissue elements has been studied in 125 dogs, providing that the other kidney, is preserved, as well as after contralateral nephrectomy and at autotransplantation. It has been stated that on the first

[Morphofunctional condition of kidney after disruption of its lymphatic drainage].

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Dimentions of the renal corpuscle, proximal and distal convoluted tubules have been studied in the dog kidney, normal and the morphofunctional state of the organ after cutting and ligation of its different lymphatic vessels (4 series of experiments in 158 dogs). The observations have been performed

Maxillofacial aspects in malignant osteopetrosis.

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OBJECTIVE Malignant osteopetrosis (MO) is a rare hereditary disease that affects young children. Its physiopathology is explained by a basic defect in osteoclast precursor cells, with a radiographic image of diffuse sclerosis and increased bone density. The bone contains an increased number of

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