Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018681 (headache)
 56,091 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report the case of a 15-year-old girl who presented with a history of recurrent bitemporal headaches for the last 2 months. In the prior few days, she complained of neck pain, emesis, phonophobia and photophobia, but no fever. Additional symptoms included polydipsia, polyuria and weight gain in the last year. Magnetic resonance imaging (MRI) of the brain demonstrated a cystic sellar and suprasellar mass with peripheral enhancement. Cerebrospinal fluid studies showed pleocytosis. Serum hormone levels were consistent with panhypopituitarism. Transnasal sphenoidotomy was performed, and 2 mL of purulent material was drained, confirming the diagnosis of pituitary abscess. The patient completed 6 weeks of parenteral antibiotics. She improved but continued to require home hormonal replacement therapy. A repeated MRI 3 months later showed abscess resolution. In addition to tumors, pituitary abscess should be considered in children who present with headache and panhypopituitarism, particularly in those who present with signs of meningeal inflammation. Prolonged parenteral antibiotics and surgical drainage are effective.
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PMID:Pituitary abscess in an adolescent girl: a case report and review of the literature. 2515 62

Severely worn out dentition needs to be given definite attention as it not only affects aesthetics but can also cause psychological distress to the affected individual. It can cause chewing difficulty, temporomandibular joint problems, headaches, pain and facial collapse. Before any attempt to restore severely worn dentition, aetiology of excessive tooth wear should be established. Severe wear can result from chemical cause, mechanical cause or a combination of various causes. Dental fluorosis can also result in severe wear of teeth. Teeth sometimes become extremely porous and friable with a mottled appearance ranging from yellow to brown-black. There occurs loss of tooth substance and anatomic dental deformities resulting in un-aesthetic dentition requiring full mouth rehabilitation. Here a similar case of full mouth rehabilitation of severely worn dentition due to dental fluorosis in a 27-year-old patient is presented. This case report conjointly presents the uncommon association of diabetes insipidus with dental fluorosis. Diabetes insipidus through its characteristic symptom of polydipsia can result in intake of more than permitted dose of fluoride thus causing dental fluorosis. In literature only few cases have been reported of dental fluorosis in association of diabetes insipidus. Full mouth rehabilitation of the patient was successfully accomplished through well-planned systematic approach to simultaneously fulfill aesthetic, occlusal and functional parameters.
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PMID:Full mouth rehabilitation in a medically compromised patient with fluorosis. 2517 54

A 45-year-old female patient presented with symptoms of polydipsia and polyuria, menopause, headache, gait disturbance and deteriorated mental state. Brain magnetic resonance imaging (MRI) showed an irregular mass in the anterior third ventricle. The tumor was excised using a transfrontal approach from the anterior section of the third ventricle. The histological diagnosis was of an intracranial pure yolk sac tumor. The patient underwent radiotherapy and suffered no tumor recurrence one year after the surgery. Overall, when heterogeneous enhancement and an irregular mass with surrounding invasion and ventricular dilation are observed in the anterior third ventricle of an adult, a yolk sac tumor should be considered, and MRI may aid the differential diagnosis. A combination of surgical resection and radiotherapy is recommended for the yolk sac tumor.
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PMID:Intracranial pure yolk sac tumor in the anterior third ventricle of an adult: A case report. 2528 43

Water intoxication is a rare condition characterised by overconsumption of water. It can occur in athletes engaging in endurance sports, users of MDMA (ecstasy), and patients receiving total parenteral nutrition. This case outlines water intoxication in a patient with psychogenic polydipsia. When the kidney's capacity to compensate for exaggerated water intake is exceeded, hypotonic hyperhydration results. Consequences can involve headaches, behavioural changes, muscular weakness, twitching, vomiting, confusion, irritability, drowsiness, and seizures. Cerebral oedema can lead to brain damage and eventual death. In this case, psychogenic polydipsia led to significant hyponatraemia, cerebral oedema, and tonic-clonic seizures. Differential diagnoses for hyponatraemia are outlined. The aetiology of psychogenic polydipsia is uncertain, but postulated hypotheses are explored. Psychogenic polydipsia occurs in up 20% of psychiatric patients and this case serves to remind us to be cognizant of water overconsumption.
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PMID:Psychogenic polydipsia: the result, or cause of, deteriorating psychotic symptoms? A case report of the consequences of water intoxication. 2568 18

A 16-year-old girl was referred for the evaluation of headache exacerbation and progressive loss of visual field from one month ago. She also suffered from intermittent diarrhea since 12 months ago and secondary amenorrhea, headache, weight loss (4 - 5 kg) and weakness from six months ago. She had a history of transient polydipsia and excessive urine output during this period. Brain Magnetic Resonance Imaging (MRI) reported a 15 x 15 x 9 millimeters mass lesion in the sellar region. It was extended to the suprasellar cistern with mild compression of the optic chiasm and mild thickening of the pituitary stalk with posterior displacement were reported. In an exisional biopsy of pituitary stalk lesion, the pathology result was indicative of Langerhans cell histiocytosis (LCH). The patient underwent four periods of chemotherapy with prednisolone and vinblastin in 28-day intervals followed by one cycle of radiation therapy. In three months follow up after treatment the tumor size was reduced, Levothyroxin and Prednisolone were tapered, and pituitary hormones were improved.
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PMID:Pituitary stalk thickening in a case of langerhans cell histiocytosis. 2577 95

Nephrogenic diabetes insipidus (NDI) is caused by the inability of renal collecting duct cells to respond to arginine vasopressin (AVP)/antidiuretic hormone (ADH). We present the case of a 7-year-old boy with a history of excretion of large amounts of dilute urine and polydipsia since infancy. The boy had several vomiting episodes with mild dehydration during the first 3 years of life. There was no evidence of headaches, dizziness or visual problems. He drinks between 2 and 3 L/day and has 24-hour diuresis of 2 liters, now. He has prepubertal appearance with appropriate weight [+0.85 standard deviation score (SDS)] and height (+0.15 SDS) for his age. His intelligence was also normal. The water deprivation test showed low urine osmolality after 8 hours of dehydration. After desmopressin administration, urine osmolality remained low. Serum osmolality was in the normal range for sex and age before and after desmopressin administration. This indicated a nephrogenic form of diabetes insipidus. Molecular analyses revealed a P286L [p.Pro(CCC)286Leu(CTC)] mutation in the AVPR2 gene, that was inherited from his mother. This patient is the first case with genetically confirmed X-linked inherited form of NDI in the Republic of Macedonia. Molecular analysis confirmed the clinical diagnosis and enabled genetic advice for this family.
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PMID:X-Linked Recessive form of Nephrogenic Diabetes Insipidus in a 7-Year-Old Boy. 2593 2

Hereditary nephrogenic diabetes iInsipidus (HNDI) is an uncommon disorder due to a resistance to anti-diuretic hormone leading to a reduced urinary concentrating ability. The X-linked form is fully expressed in hemizygous male patients, but diabetes insipidus may also present in heterozygous females where it must be distinguished from autosomal and other secondary causes. We report a mother and daughter in the same family with HNDI due to a heterozygous deletion in exon 1 of the AVPR2 gene, not previously described in the literature. A 5-year-old girl was referred for investigation of polyuria and polydipsia. The patient had a water deprivation test elsewhere at the age of 3 that was inconclusive. A degree of water restriction was imposed leading to headaches. The thyroid, cortisol, renal, and calcium profiles were normal. Her mother showed similar symptoms that had not been previously investigated. AQP2 (Aquaporin) and initial AVPR2 gene sequencing had not identified a mutation, but subsequent quantitative polymerase chain reaction analysis revealed a heterozygous large exon 1 deletion of the AVPR2 gene. The same deletion was also found in the child's mother. The patient's symptoms have significantly improved on appropriate treatment. Further analysis revealed skewed X inactivation in mother and daughter.
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PMID:An unusual case of hereditary nephrogenic diabetes insipidus (HNDI) affecting mother and daughter. 2624 74

Primary hyperparathyroidism is a generalized disorder of bone and mineral metabolism caused by autonomous secretion of parathyroid hormone. It is primarily seen in adults with typical age of presentation between third and fifth decades of life. Juvenile hyperparathyroidism is a rare disorder. The common presentations in order of incidence are fatigue and lethargy, headache, nephrolithiasis, nausea, abdominal pain, vomiting and polydipsia. Though skeletal symptoms include bone pains and fractures, but the presence of limb deformity is atypical. We report a case of young girl who presented with isolated progressive genu valgum of both lower limbs and pigeon-shaped chest deformity. She was found to have hypercalcemia and hypophosphatemia with raised parathyroid hormone levels. The neck imaging showed a single adenoma in the left inferior parathyroid gland. The surgical removal of parathyroid adenoma was performed.
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PMID:Bilateral genu valgum: an unusual presentation of juvenile primary hyperparathyroidism. 2747 96

Hypophysitis includes three histopathologically distinct entities - granulomatous, lymphocytic and xanthomatous forms. Etiopathogenesis and the immunological differences among these is not well characterized. This study aims to explore the immunopathogenesis of granulomatous and lymphocytic forms of hypophysitis. Demographic, clinical, endocrine function and radiological features of 33 histologically confirmed cases of hypophysitis were reviewed. Immunophenotyping of inflammatory component was performed in 13/33 cases. Visual disturbances (46%), headache (36%), polyuria/polydipsia (6%), menstrual disturbance (6%) and galactorrhoea (6%) were the frequent presenting symptoms. Endocrine abnormalities were noted in 11/18 cases evaluated (61%). Hypothyroidism was the most common endocrine abnormality (33.33%) followed by hyperprolactinaemia (22%) and hypocortisolism (16.66%). On neuroimaging, sellar mass with variable contrast enhancement was observed. On histology, granulomatous hypophysitis (GH) was more common (84.84%) than lymphocytic hypophysitis (LH) (15.15%). In GH, the infiltrate had almost equal proportions of CD3+ T cells and CD68+ histiocytes. Cytotoxic T cells (CD8+) predominated [CD4:CD8 < 1]. CD20+ B cell component ranged from <5% to 50%. Fibrosis, necrosis and giant cells accompanied GH. LH in contrast, had CD4+ T-helper cell predominance [CD4: CD8 > 1]. CD68+ histiocytes constituted <20% and CD20+ B cells, 5-40% of the infiltrates. In conclusion, GH revealed cytotoxic T cell and histiocyte rich infiltrate in contrast to CD4+ T-cell predominance in LH suggesting that the two forms have distinct immunological mechanisms in evolution, an autoimmune process in LH and type IV hypersensitivity response in GH.
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PMID:Granulomatous and lymphocytic hypophysitis - are they immunologically distinct? 2770 5

We present a very rare case of suprasellar germinoma that spontaneously regressed before endoscopic biopsy. An 8-year-old boy was admitted to our hospital due to headache, polydipsia, and polyuria. Neurological examination performed on admission revealed bitemporal hemianopia. Enhanced MRI demonstrated a homogeneously enhanced tumor mass in the suprasellar region obstructing the foramen of Monro. Tests for all serum tumor markers were negative. Plain X-ray and CT scan were performed once and twice, respectively, for seven days between admission and endoscopic biopsy. The total dose of diagnostic radiation exposure before surgery was 110 mGy. Endoscopic observation during surgery revealed that the tumor had markedly decreased in size and the foramen of Monro had reopened. A very small piece of the tumor was harvested during surgery. Plain CT scan just after surgery showed a marked decrease in the tumor size, compared with the preoperative CT scan. The pathological diagnosis of the tumor was pure germinoma. The patient then underwent chemotherapy(four courses of CARE regimen)followed by radiation therapy with a dose of 24 Gy/15 fr. The tumor completely disappeared after treatment, and no recurrence was observed in the past four years.
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PMID:[A Case of Suprasellar Germinoma that Spontaneously Regressed before Endoscopic Biopsy]. 2772 5


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