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1/7. adrenoleukodystrophy. Report of a case with extremely slow progression of symptoms.

    adrenoleukodystrophy (ALD) is a sex-linked disorder characterized by very long chain fatty acid accumulation in different tissues, but mainly in the adrenal cortex, gonads and nervous system. The typical symptoms are hypoadrenalism, hypogonadism and central and peripheral nervous system impairment due to demyelination. On neurological grounds visual and hearing loss associated with quadriparesis are the most common symptoms, onset in childhood and a rapidly progressive course leading to a vegetative state and death. We report the case of a 31-year-old man affected by ALD, whose neurological symptoms started at the age of 12 and showed a markedly slow progression during the following years.
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keywords = x-linked
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2/7. adrenoleukodystrophy: heterogeneity in two brothers.

    A man with hypoadrenalism died from a rapidly progressive pseudobulbar palsy, due to adult onset adrenoleukodystrophy. This diagnosis suggested that his brother, with a longstanding spastic paraparesis, suffered from adrenomyeloneuropathy. Both cases were confirmed biochemically. The heterogeneity of expression of this x-linked disorder is described, with the consequent difficulty in diagnosis and nomenclature.
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keywords = x-linked
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3/7. MR imaging of pelizaeus-merzbacher disease.

    pelizaeus-merzbacher disease (PMD) is a rare, slowly progressive, sex-linked demyelinating disorder generally classified with the sudanophilic leukodystrophies. The onset is most often in the pediatric age group and may be diagnosed as cerebral palsy because of the subtle onset. Cranial magnetic resonance (MR) imaging of two patients with PMD showed reversal of the normal gray/white matter signal relationships, consistent with dysmyelination, as well as low intensity lentiform nuclei and thalami possibly suggesting pathologic iron deposition. Magnetic resonance also better demonstrated low volume brain without the beam hardening limitations of X-ray CT. Although our MR findings correlate well with the pathophysiology of PMD, the MR characteristics are not specific. The diagnosis of PMD remains one of clinical and laboratory exclusion.
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keywords = x-linked
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4/7. Vestibular studies in pelizaeus-merzbacher disease.

    pelizaeus-merzbacher disease is a rare sex-linked recessive neurological disorder. It presents with a slowly progressive neurological deterioration. It is liable to be misdiagnosed as cerebral palsy. A family history of similar disease is a clue to the diagnosis. A patient with this condition has been followed over many years. Nystagmus was noted to be present shortly after birth. Audiovestibular investigations were performed. All tests of peripheral hearing were normal. ABR indicated abnormal brainstem conduction. Several electronystagmographic abnormalities were present. These were of a central type. They included failure of fixation suppression, poor smooth pursuit, and impaired performance of optokinetic nystagmus at high stripe speeds. During caloric-induced nystagmus an excessively prolonged slow phase of nystagmus with wide eye excursions was seen. We have not seen this feature in any other diseases and we suggest it may be specific for this syndrome.
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keywords = x-linked
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5/7. Connatal pelizaeus-merzbacher disease with congenital stridor in two maternal cousins.

    Two maternal cousins are described with the connatal form of pelizaeus-merzbacher disease (PMD) and congenital stridor. Study of brain biopsy material confirms the diagnosis of PMD. The neuropathological findings are suggestive for the transitional form of this disease. Quantitative morphology gives support to the hypothesis that PMD is a disturbance in maturation of neurons and in myelin formation rather than an active degenerative process. The hereditary transmission is most consistent with a sex-linked recessive pattern. Different X-linked signs seem combined in the presented cases.
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keywords = x-linked
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6/7. sex determination of human embryos using the polymerase chain reaction and confirmation by fluorescence in situ hybridization.

    OBJECTIVE: To use fluorescence in situ hybridization to corroborate the polymerase chain reaction (PCR) preimplantation diagnosis of human embryos in three couples carrying a chromosome X-linked disease. SETTING: Clinical and research IVF laboratories. patients: Individuals undergoing preimplantation diagnosis. RESULTS: Four ETs were performed in couples undergoing preimplantation diagnosis by multiplex PCR or fluorescence in situ hybridization, resulting in the birth of two normal female twins. The result of another is pending. A total of 22 embryos were analyzed by PCR. Embryos that were diagnosed as being at risk of carrying the genetic abnormality (n = 8), embryos that failed diagnosis (n = 4), and genetically normal embryos that arrested development (n = 4) were further analyzed by fluorescence in situ hybridization. The sex of all 16 embryos was determined and confirmed the previous 12 preimplantation diagnoses by multiplex PCR. In addition, fluorescence in situ hybridization analysis allowed the detection of two aneuploid embryos, one XO and one XXY, previously diagnosed by PCR as a normal female and male. Two mosaics were also detected. CONCLUSION: polymerase chain reaction and fluorescence in situ hybridization are possible for preimplantation sex determination in cases of genetic sex-linked disease. fluorescence in situ hybridization, however, supplies additional information about sex chromosome aneuploidy and is not susceptible to contamination or misdiagnosis of monosomy X.
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keywords = x-linked
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7/7. sex-linked sudanophilic leukodystrophy with adrenocortical atrophy (so-called Schilder's disease). Report of a case and review of the literature.

    We report the clinical and pathologic features of a case of sex-linked sudanophilic leukodystrophy in an 8-year-old boy. Our survey of the pertinent literature on this disease supports the current view that it is not limited to the central nervous system, but is a generalized process, probably caused by an unknown metabolic defect, with a definitive genetic pattern and varying expressions. Although the disease was originally described by Schilder as a single entity, cases like ours show that the term "sudanophilic leukodystrophy" represents a better classification than the usually misinterpreted eponym, "encephalitis periaxialis diffusa."
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ranking = 5
keywords = x-linked
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