Gitelman syndrome is a rare autosomal recessive renal tubular disease, caused by mutations in the SLC12A3 gene, which encodes the renal thiazide-sensitive sodium-chloride cotransporter (NCCT) in the distal renal convoluted tubule. We present a 48-years-old male referred to our observation after being considered not suitable to a previous proposed surgery due to persistent hypokalemia. No valued symptoms were described. Laboratory tests showed metabolic alkalosis, hypomagnesemia, hypokalemia and secondary hyperaldosteronism. Genetic test was performed and sequence analysis of the SLC12A3 gene revealed a homozygous mutation confirming this disease. The aim of this report is to remind and increase awareness of the existence of GS, manage the condition properly and consider the risk of disease recurrence to the next generations.
IntroductionEating disorders are characterized by a persistent disturbance of eating behaviour that results in altered consumption of food and that significantly impairs physical health or psychosocial functioning. Treatment of eating disorders is complex and challenging and sometimes patient's hospitalization is needed. The Santa Maria Hospital's Eating Disorders Unit is a specialized multidisciplinary team with long experience in the treatment of such disorders.ObjectivesTo present and discuss the results of the inpatient treatment program for patients with eating disorders held at the Santa Maria Hospital's Eating Disorders Unit.Methodsreview of clinical files of all patients hospitalised at Santa Maria Hospital's Eating Disorders Unit during a twelve month period and statistical analysis of data collected using SPSS program.ResultsThe sample included mainly female patients with anorexia nervosa with a significantly low body weight. In this presentation we show the results of the statistical analysis performed for sample characterization (both demographic and clinical variables), evaluation of patient's clinical outcome and features associated with good or poor prognosis.ConclusionsThe results of this study show the importance of inpatient care especially for patients with anorexia nervosa with a significantly low body weight.
IntroductionAnorexia nervosa is an uncommon but life threatening psychiatric disorder that is characterized by persistent energy intake restriction associated with intense fear of gaining weight and disturbance in self-perceived weight or shape. The nutritional compromise associated with anorexia nervosa affects most major organ systems, including the brain.ObjectivesTo present and discuss the case of a patient with restricting-type anorexia nervosa who presents brain cortical atrophy.Methodsinterview with the patient, analysis of patient's clinical file (including neuroimaging studies) and literature review on brain changes, especially focused on cortical atrophy, in restricting-type anorexia nervosa patients using the Pubmed/Medline databases.Resultsa 21 year-old female patient, with diagnosis of severe restricting-type anorexia (BMI < 15 Kg/m2), hospitalized for severe low body weight without any signs or symptoms besides memory complaints. The neurological exam was normal. Brain CT scan revealed generalized brain cortical atrophy.ConclusionsIn anorexia nervosa, long-term persistent energy intake restriction is associated with brain volume changes, particularly global gray matter reduction which can be reversed by normal eating and associated weight gain. Although most cases of brain cortical atrophy are reversible, some will still persist despite normal eating. This report presents a challenging patient with restricting-type anorexia nervosa with brain cortical atrophy whose successful clinical outcome will depend on anorexia's prompt and effective treatment.
Introduction: Schizophrenia is a clinical syndrome characterized by a heterogeneous mixture of clinical features referred to as psychosis. The age of onset of schizophrenia appears to be 18-25 years for men and 25-35 years for women. Onset after the age of 45 (late onset) is uncommon and after the age of 65 (very late onset) very uncommon. Objectives: present and discuss the case of a patient with late onset schizophrenia. Methods: analysis of patient's medical file. Results: A 76 years old female patient, married, mother of 3, house maid was diagnosed late onset schizophrenia at age 63 at her first Psychiatric appointment. At that time, patient presented systematized bizarre delusions of persecution, auditory hallucinations of two voices arguing with each other and thought broadcasting. She maintained her adequate social functioning and only her nuclear family noticed symptom's onset scheduling a Psychiatric appointment for her. She began treatment with risperidone (2mg/day). After some weeks of treatment there was complete remission of symptoms. Psychiatric follow-up and risperidone treatment were maintained for 13 years. In the last few months, the patient began the same clinical symptoms she had experienced at age 63. After augmenting risperidone dose there was complete remission of symptoms after 2 weeks. Conclusions: This clinical case reports a patient with schizophrenia with an onset at age 63 which is an uncommon diagnosis for presenting psychotic patients at this age. Nevertheless, late onset schizophrenia usually has a good therapeutic response to low dose neuroleptic therapy and a good prognosis.
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