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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Based on a case report, the combined occurrence of a hypopituitary crisis and acute renal failure (ARF) is discussed. Aetiologically, the patient's disease dates back to an operation on the pituitary gland 40 years previously followed by a panhypopituitarism. The course of the disease presented initial symptoms which did not suggest a hypopituitary crisis to the first physician. The patient was hospitalized primarily on the tentative diagnosis of encephalitis. Subsequently, both laboratory findings and sonography of the abdomen pointed to chronic renal failure. The severity of the clinical course led to the transfer of the patient to our hospital for haemodialysis. Examination of the soporous patient revealed in addition to symptoms of ARF based on ambilateral pyelonephritic nephrocirrhosis typical cardinal symptoms of an endocrine insufficiency. Sopor, serious exsiccosis, pale, cool, pigmentless skin, deficiency of axillary and pubic hair, gonadal atrophy, hypotonia, hypothermia, bradypnoea and bradycardia as well as anamnesis of the patient substantiated the tentative diagnosis of a hypophysical coma based on hypopituitarism, clinically dominated by hypothyroidism. Following an immediately launched hormone substitution in combination with haemodialysis the state of the patient improved. However, during the fifth haemodialysis cardiac arrest occurred, the cause of which was put down to a dysequilibrium syndrome. The cause, however, must be seen in a continuing stress situation, inadequate hormone substitution and in sedation with diazepam. After reanimation the patient was transferred to the ICU.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Pituitary crisis and acute renal failure--a case report]. 814 59

Congenital panhypopituitarism is a rare disease. It may be a complication of tumors, craniocerebral trauma, infection, granulomatous diseases, vascular pathologies, etc. In many cases no primary disease causing panhypopituitarism is found (idiopathic form). A potential reason is interruption of the pituitary stalk due to ischemic etiology in patients with cord encirclement and/or other birth injuries leading to interruption of the axonal transport of ADH and oxytocin as well as hypothalamic releasing hormones. This explains the ectopy of the neurohypophysis without diabetes insipidus and the hypoplasia of the adenohypophysis. GH-deficiency causes short stature and metabolic disturbances, LH-FSH-deficiency amenorrhoea/oligomenorrhoea, loss of libido and secondary sexual characteristics, TRH-deficiency hypothyroidism and ACTH-deficiency hypotonia, weakness, loss of pigmentation. We report a case of congenital panhypopituitarism. MR imaging of the brain revealed a hypoplastic adenohypophysis and a hypoplastic pituitary stalk which was interrupted in its superior segment. An ectopic neurohypophysis was found located in the area of the hypothalamus ("hypothalamic hot spot"). The ectopic neurohypophysis showed strong enhancement after intravenous application of Gd-DTPA. MR imaging of the hypothalamic-hypophyseal axis is well suited for the differentiation between congenital and acquired forms of panhypopituitarism in clinically uncertain cases.
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PMID:[Neuro-MR-findings in primary panhypopituitarism]. 979 7

Duplications involving the X chromosome, in which the duplicated region is not subject to inactivation, are rare. We describe four distal Xq duplications, in three males and one female, in which the duplicated X chromosomal material is active in all cells. The infantile phenotype bears some resemblance to that of the Prader-Willi syndrome, presenting with initial feeding difficulties, hypotonia and, sometimes, with cryptorchidism. However, the severity of the phenotype is not simply related to the size of the duplication and so variations in gene expression, gene disruption or position effects from breakpoints should be considered as explanations. We have compared the clinical, cytogenetic and molecular findings of our patients with those previously reported. This has enabled us to question the suggestion that duplication of the gene SOX3 is the cause of hypopituitarism and that duplication of Filamin A is the cause of bilateral periventricular nodular heterotopia/mental retardation syndrome (BPNH/MR). We have also narrowed the putative critical interval for X-linked spina bifida.
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PMID:Functional disomy resulting from duplications of distal Xq in four unrelated patients. 1533 77

A 21-year-old man presented with headache, hypotonia, hypothermia, and somnolence, deteriorating to a Glasgow Coma Scale score of 3 within days. Hormonal testing revealed panhypopituitarism. His cerebral MRI showed a gadolinium-enhancing lesion in the pituitary gland with adjacent changes to the hypothalamus, midbrain, and basal ganglia (figures 1 and 2). Therapy with prednisolone resulted in rapid improvement. Ma2 antibodies were found in the patient's serum and CSF. FDG-PET demonstrated a tumor mass in the superior mediastinum and histology revealed a mediastinal seminoma. Ma2 antibody-mediated paraneoplastic disease has to be considered as a rare differential diagnosis in patients presenting with acute panhypopituitarism.(1.)
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PMID:Teaching NeuroImages: Ma2 encephalitis presenting as acute panhypopituitarism in a young man. 2419 4

Paradichlorobenzene (PDB) is an aromatic compound found in several household insect repellents and deodorizers. Paradichlorobenzene may cause dependence and damage when inhaled or ingested. Prior cases of PDB neurotoxicity involved ingestion or inhalation of mothballs or occupational exposure. We report the first case of PDB neurotoxicity from chronic toilet bowl deodorizers ("toilet cake") sniffing. A 19-year-old woman, 4 weeks postpartum, presented with gradual mental status deterioration, lethargy, and general weakness for 2 weeks. On physical examination, the patient was found to have a strong odor of deodorizer and diffuse hyperpigmented skin lesions, with scratch marks in neck, axillae, trunk, and 4 limbs. She was alert but unable to communicate or follow commands. Ataxia, hyporeflexia, cogwheel rigidity, and decreased muscle tone were also noted. Laboratory tests revealed only normocytic anemia. A brain magnetic resonance imaging scan showed enhancement within the splenium of the corpus callosum. Postpartum depression, psychosis, and panhypopituitarism were excluded. Family members reported on further questioning that the patient was a habitual "toilet cake" sniffer for an unknown period. A urine test for 2,5-dichlorophenol (a PDB metabolite) level was 620 mg/L (3100 times higher than the average concentration with household exposure). Her clinical condition and body odor remained unchanged during the 30-day hospitalization and the skin findings improved.
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PMID:"Toilet cake" encephalopathy. 2518 76

The Joubert syndrome is characterized by hypotonia, ataxia, facial dysmorphism, abnormal eye movement, irregular breathing pattern and cognitive impairment. The molar tooth sign is the pathognomonic midbrain-hindbrain malformation for Joubert syndrome. Joubert syndrome and related disorders (JSRD), are the clinically and genetically heterogen disorders in which the obligatory hallmark is the molar tooth sign (MTS). In this report, it was described the association of the molar tooth sign, absence of pituitary gland and corpus callosum agenesis on an infant with JSRD. To the best of our knowledge, this is the first case diagnosed as JSRD and panhypopituitarism without features of OFD VI.
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PMID:AN UNUSUAL PRESENTATION OF JOUBERT SYNDROME AND RELATED DISORDERS IN A NEWBORN: PANHYPOPITUITARISM. 3020 65