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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The death of King Charles II, the Bewitched, ended two centuries of sovereignity of the Habsburg dynasty in Spain. Since his birth in 1661, he presented a peculiar set of physical, psychiatric and behavioral signs, such as respiratory and diarrheal diseases, recurrent seizures and deep developmental delay. It was not until his adulthood when his infertility became evident, being incapable of conceiving a heir, even though he married twice. Such a constellation of ominous signs motivated a curious investigation, which concluded that the king was hexed at the age of 14 years in order to take away his throne, his health and his capacity to procreate. Based on contemporary medical knowledge, it is possible that Charles IIhad a rare autosomal recessive inherited genopathy asa consequence of the frequent inbreeding among his ancestors. On the other hand, its is also possible that Charles II presented Klinefelter Syndrome, the most frequent sex chromosome disorder in humans and the most common cause of hypogonadism and infertility in males. The hypothesis that Charles II was bewitched reflects a deep belief in supernatural phenomena among the Castilian society at the beginning of the 18th century, an idea transmitted across generations, currently present in many societies worldwide.
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PMID:[Charles II of Spain, the bewitched]. 1894 77

Sarcoidosis is a chronic disease of unknown aetiology. Neurosarcoidosis is registered in 5% of patients with sarcoidosis. Clinical manifestations of sarcoidosis are numerous and diverse. Manifestation of Neurosarcoidosis includes partial- and grand-mal seizures, low-grade fever, headache, increased intracranial pressure, visual disturbances, diabetes insipidus, amenorrhea- galacterorrhea syndrome and pituitary failure, hypogonadotropic hypogonadism, hyperprolactinemia, unilateral and bilateral facial palsy, infiltration of meninges (aseptic meningitis) and nerve roots, leptominingitis, pachymeningitis with cranial neuropathies, pseudotumor, mild cognitive disorder, psychosis, delirium, dementia, disorientation, amnesia, progressive visual deterioration and proptosis, axonal polyneuropathies, mononeuropathies, chronic polyradiculoneuritis, peripheral neuropathy, cranial nerve abnormalities, radiculopathies, peripheral neuropathy, mononeuritis multiplex, progressive numbness and deep sensation disturbance in bilateral lower extremities, hemiplegia, hyperreflexia with pathological reflexes and hypesthesia, upward gaze palsy, spinal cord compression, dysarthria, dysphagia, weakness, episodes of blurred vision, diplopia, intracerebral hemorrhage, neuro-ophthalmic manifestations, intranuclear ophthalmoplegia, dysorientation, vasculitis presenting with strokes, intracranial hypothalamic lesion, paresthesis, hemiparesis, myelopathy in the cervico-thoracic region, lumbar pain, sensory level and inability of lateral gaze (Tab. 2, Ref. 60).
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PMID:Clinical manifestations of neurosarcoidosis. 1982 43

We report on a full-term male infant with hypoplastic male genitalia and bilateral impalpable testes noted at birth, who over the following months developed increasing hypotonia, apneic episodes, and seizures resulting in his death at age 24 weeks. During this period regression of penile corporeal tissue was observed. An endocrinological diagnosis of primary hypogonadism was made and cerebral imaging at 19 weeks showed reduced periventricular white matter with marked pontocerebellar hypoplasia (PCH)/atrophy, but a well-developed posterior fossa. We propose that this condition constitutes a new form of severe PCH/atrophy with testicular regression that has onset in the fetal period.
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PMID:Early pontocerebellar hypoplasia with vanishing testes: A new syndrome? 2159 90

Kallmann syndrome is characterized by hypogonadotropic hypogonadism and anosmia/hyposmia. The hypogonadotropic hypogonadism is due to deficiency of gonadotropin-releasing hormone, caused by a defect in the migration of neurons synthesizing gonadotropin-releasing hormone, and anosmia/hyposmia is related to the absence or hypoplasia of the olfactory bulb and tracts. Some patients may have other associated abnormalities such as renal agenesis, cleft palate, dental agenesis, synkinesis, shortening of metacarpal, sensory neural hearing loss and seizures. The aim of this paper is to present an updated review of the clinical and molecular basis, highlighting the relevance of knowledge of phenotypic variants in Kallmann syndrome.
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PMID:[Current genetic issues and phenotypic variants in Kallmann syndrome]. 2288 83

Patients with X-linked lissencephaly with ambiguous genitalia (XLAG) syndrome present with lissencephaly, agenesis of the corpus callosum, refractory epilepsy of neonatal onset, microcephaly, and male genotype with ambiguous genitalia. The basis of the ambiguous genitalia in XLAG syndrome is not well-known. We report a case of the fourth child of healthy consanguineous parents who was presented to the hospital because of non-febrile seizures at 2 months of life. On physical examination, microcephaly, some dysmorphic face features, and ambiguous genitalia were determined. The cranial magnetic resonance imaging of the patient showed lissencephaly, agenesis of the corpus callosum, and enlarged ventricles. His karyotype was 46, XY. He had undetectable testosterone levels and elevated gonadotropins. Neither testicular tissue nor any testosterone response to human chorionic gonadotropin stimulation test was observed. These findings suggest that the hypogonadism in this patient with XLAG syndrome is primary hypogonadism due to gonadal agenesis or dysgenesis.
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PMID:Primary hypogonadism in a case with XLAG syndrome. 2332 64

We present a case of a 16-year-old boy with Klinefelter syndrome who presented with a syndrome of impaired alertness, orofacial dyskinesias, choreiform movements, epileptic seizures, and autonomic instability, pointing to a diagnosis of anti-N-methyl-Daspartate (anti-NMDA) receptor antibody encephalitis.
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PMID:Anti-N-methyl-D-aspartate (anti-NMDA) receptor antibody encephalitis in a male adolescent with a large mediastinal teratoma. 2456 71

Angelman syndrome (AS, OMIM 105830) is a neurogenetic disorder with firm clinical diagnostic guidelines, characterized by severe developmental delay and speech impairment, balanced and behavioral disturbance as well as microcephaly, seizures, and a characteristic electroencephalogram (EEG). The majority of AS cases (70%) are caused by a 15q11.2-q13 deletion on the maternally derived chromosome. The frequency of AS has been estimated to be between 1/10000 and 1/20000. Klinefelter syndrome (KS) occurs due to the presence of an extra X chromosome (karyotype 47,XXY). The main features in KS are small testes, hypergonadotropic hypogonadism, gynecomastia, learning difficulties, and infertility. We present what is, to our knowledge, the first case of a patient with both KS and AS due to a 15q11.2-q13 deletion on the maternally derived chromosome and an extra X chromosome of paternal origin. He showed dysmorphic features, axial hypotonia, and delayed acquisition of motor skills. Early diagnosis is essential for optimal treatment of AS children; this is one of the earliest diagnosed cases of AS probably due to the presence of two syndromes. Clinical findings in this patient here described may be helpful to identify any other cases and to evaluate recurrence risks in these families.
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PMID:Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13. 2537 97

Klinefelter syndrome is a disorder of variation of sex chromosome, the most common karyotype being 47XXY. Multiple case reports and articles have been published linking the increased prevalence of psychiatric disorders like Schizophrenia, Schizophreniform psychosis, Attention deficit hyperkinetic disorder, Learning disorder, etc. and seizure disorder in Klinefelter syndrome than in general population, attributing to the extra X chromosome. Here is a case of a 45-year-old gentleman with Klinefelter syndrome with schizophrenia-like psychosis and seizure disorder. He was diagnosed as Klinefelter syndrome 15 years back by genetic testing (47XXY) when he was investigated for infertility. His luteinizing hormone (LH) (32.04 mIU/ml) and follicle-stimulating hormone (FSH) (50.70 mIU/ml) levels were high and his testosterone level was low (1.76 ng/ml). He had four episodes of seizures in 2004 for which he was started on phenytoin and sodium valproate, and was seizure-free for past 10 years. He was brought to our hospital in July 2014 with complaints of talking and laughing to self, suspicion, hearing voices and aggressive behaviour, which were persistent mildly for past 15 years and aggravated for past 6 months. He was not going for work for past 15 years, does not mingle with relatives or friends.
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PMID:A Case Report of Klinefelter Syndrome with Schizophrenia-Like Psychosis and Seizure Disorder. 2666 93

Klinefelter syndrome (KS) is characterized in adults by the combination of a tall stature, small testes, gynecomastia, and azoospermia. This case is described in a North African population of the Mediterranean region of North Africa. We report the case of a male 16 years old, of Arab ethnic origin, and diagnosed with this syndrome, who had a small height in relation to a growth hormone (GH) deficiency and a history of absence seizures (generalized myoclonic epilepsy). The patient's size was <-2.8 standard deviation (SD) with weight <-3 SD. GH deficiency was isolated and confirmed by two dynamic tests (insulin - hypoglycemia tolerance test and clonidine) with normal hypothalamic magnetic resonance imaging (MRI). GH supplementation using recombinant GH was advocated, while gonadotropin treatment was deferred. Small size in children or adolescents should not eliminate the diagnosis of Klinefelter syndrome - on the contrary, the presence of any associated sign (brain maturation, delay in puberty, aggressiveness) should encourage one to request a karyotype for the diagnosis and appropriate care of any case of KS that can be associated with GH deficiency, or which is in a variant form (isochromosome Xq, 49,XXXXY).
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PMID:Exceptional Association Between Klinefelter Syndrome and Growth Hormone Deficiency. 2733 Jul 37

Pituitary stalk interruption syndrome (PSIS) is a congenital disease with isolated growth hormone deficiency (GHD) or multiple anterior pituitary hormone deficiencies (MPHD). The typical clinical manifestations of PSIS are growth retardation, hypoglycemia or delayed pubertal development. However, few reports showed cases of PSIS were diagnosed with acute epileptic seizures accompanied by hyponatremia. Here, we report an 18-year-old female presenting with episodes of intermittent seizures for 13 years. The electrolyte examination on many occasions has shown hyponatremia, even as low as 99.9 mmol/L. However, the cause of hyponatremia has not been further discussed. The patient had short stature and no pubertal development. The laboratory tests revealed growth hormone deficiency, secondary adrenal insufficiency, hypothyroidism and hypogonadotropic hypogonadism. MRI showed an ectopic hyperintense signal of the posterior pituitary and no visible anterior pituitary gland or stalk. The hormone replacement therapy helped to raise the sodium concentration to a normal level and in the termination of seizures.
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PMID:A case of pituitary stalk interruption syndrome with intermittent seizures as the first presentation. 2832 39


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