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Concomitance of Familial Mediterranean Fever and Gitelman syndrome in an adolescent.

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Atmış B, Kışla-Ekinci RM, Melek E, Bişgin A, Yılmaz M, Anarat A, Karabay-Bayazıt A. Concomitance of Familial Mediterranean Fever and Gitelman syndrome in an adolescent. Turk J Pediatr 2019; 61: 444-448. Gitelman syndrome is a renal tubular salt-wasting disorder characterized by hypokalemic metabolic

[Fever and hyperprolactinaemia as the onset of Langerhans cell histiocytosis].

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Langerhan's cell histiocytosis (LCH) is a rare disorder in which granulomatous deposits occur at multiple sites within the body. The aetiology is unknown. Is more frequent in children. Presenting symptoms are polyuria and polydipsia, due to diabetes insipidus, other symptoms are skin rash, dyspnea

Type 1 diabetes mellitus associated with autoimmune thyroid disease, celiac disease and familial Mediterranean fever: case report.

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It is known that type 1 diabetes mellitus (type 1 DM) may be associated with other autoimmune diseases. Recently, a patient with an association of type 1 DM and familial Mediterranean fever (FMF) was reported in the medical literature. A 10.5-year-old boy was brought to our clinic with complaints of

Secondary parkinsonism in a patient of psychogenic polydipsia.

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A 44-year-old man presented with history of slurring of speech, slowness in activities, abnormal posturing of the upper limbs and drooling of saliva from the mouth. He had a 5-yearlong history of compulsive water drinking, consuming 12-15 L of water every day. He was earlier evaluated for the same

Identification of five novel arginine vasopressin gene mutations in patients with familial neurohypophyseal diabetes insipidus.

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Familial neurohypophyseal diabetes insipidus (FNDI) is a genetic disorder presenting with polyuria and polydipsia and is caused by mutations in the arginine vasopressin-neurophysin II (AVP-NPII) gene. The clinical manifestations of this disorder vary greatly depending on different mutations. The

Acute mononeuropathy in a child with newly diagnosed type 1 diabetes mellitus.

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BACKGROUND Neuropathy is a frequent complication of diabetes mellitus (DM), increasing with the duration of the disease, poor glycemic control and advanced age. Acute presentation of a neuropathy in the setting of a newly diagnosed type 1 DM is rare and holds a diagnostic challenge. METHODS A

Simultaneous presentation of thyroid storm and diabetic ketoacidosis in a previously healthy 21-year-old man.

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A 21-year-old young man with no history of diabetes or thyroid disease presented to the emergency department with simultaneous thyroid storm and diabetic ketoacidosis. Notable findings on admission were a ventricular rate of 235 beats/min, tachypnoea, tremors, polydipsia and a lack of fever. Due to

Pituitary gland and bone involvement of Langerhans cell histiocytosis in a boy and brief review of the literature.

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A 3 years old boy was hospitalized with a month's history of polydipsia, polyuria and low fever. There was no relevant family history. This is a rare case of Langerhans cell histiocytosis (LCH) with both bone and pituitary infiltration shown on the technetium-99m methylene diphosphonate (99mTc-MDP)

Family practitioner's guide to patient self-treatment of acute diarrhea.

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The majority of cases of acute, nonspecific diarrhea are of short duration, can be treated symptomatically with nonprescription medications and adequate hydration, and do not require a visit to the physician's office. If the family practitioner can determine via telephone that the patient, or the

Osmotic demyelination and hypertonic dehydration in a 9-year-old girl: changes in cerebrospinal fluid myelin basic protein.

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A 9-year-old girl was admitted for the treatment of hyper-natremic dehydration. Her history was significant for psychogenic polydipsia, hyponatremia, and a renal concentrating defect. She presented with a 2-day history of altered mental status, ataxia, lethargy, fever, nausea, vomiting, and

Wegener granulomatosis as an uncommon cause of panhypopituitarism in childhood.

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Wegener granulomatosis (WG) is a cytoplasmic antineutrophil cytoplasmic antibody (c-ANCA)-associated, multi-system, necrotizing granulomatous vasculitis. Inflammation of the nasal or oral mucosa, and lung and kidney involvements are typical in the course of the disease. In rare cases, pituitary

[Symptoms in patients with tubulo-interstitial nephritis].

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High dosages of nephrotoxic drugs in elderly patients might be correlated with an increase in the number of patients with tubulo-interstitial nephritis (TIN). In patients with acute TIN, marked fever, back or flank pain, CVA tenderness, skin rash, arthralgia, eosinophilia, and eosinouria are

Novel AQP2 mutation causing congenital nephrogenic diabetes insipidus: challenges in management during infancy.

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Congenital nephrogenic diabetes insipidus (NDI) is a rare inherited disorder, mostly caused by AVPR2 mutations. Less than 10% of cases are due to mutations in the aquaporin-2 (AQP2) gene. Diagnosis and management of this condition remain challenging especially during infancy. Here, we report two

Transient ventriculomegaly in an adolescent presenting with shunted hydrocephalus, diabetic ketoacidosis, and hyperglycemia.

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In this report, the authors describe a unique presentation of ventriculomegaly in the setting of diabetic ketoacidosis (DKA). A 15-year-old male, with a history of shunt placement for hydrocephalus and repair of a myelomeningocele, presented to the emergency room with DKA and was found to have

Immune-mediated vasculitis in a shar-pei with swollen hock syndrome.

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A castrated male shar-pei was presented for episodes of lethargy, swelling of the tarsal joints, and polydipsia with polyuria. Histological examination of biopsies from skin overlying the tarsi and direct immunoperoxidase immunohistochemical staining confirmed immune complex vasculitis, suggesting a

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