Annik Simons

Pericardial Effusions in Adolescent Girls With Anorexia Nervosa: Clinical Course and Risk Factors

The aim of this study was to evaluate cardiac, biochemical and endocrine differences between female adolescents with anorexia nervosa (AN) with and without pericardial effusions. We studied 128 female adolescents (9.8–17.7 years) with anorexia nervosa (AN) diagnosed according to DSM-IV (American Psychiatric Association, 1994) criteria. They all underwent an echocardiographic evaluation. In 29 patients (22.2 %) a pericardial effusion (ranging between ≥ 0.35–2.5 cm) was noted. None of the patients were clinically symptomatic. After 3 months of refeeding, the effusions disappeared in 18/29 patients while in 7/29 patients a pericardial effusion > 0.3 cm persisted. Risk factors for development of effusions were a BMI ≤ 13,5 kg/m², weight loss ≥ 25% and IGF-1-level ≤100 ng/ml. Pericardial effusions are common in adolescent AN patients. They are mostly asymptomatic not requiring any intervention and spontaneously regress with refeeding. They are more common in the patients with the most significant weight loss.

Erythema Ab igne in an adolescent with anorexia nervosa

OBJECTIVE A rare skin lesion, erythema ab igne (EAI) is presented, in an adolescent female with anorexia nervosa. METHOD Clinical records of this patient were compared with a pubmed search about EAI in patients with an eating disorder. RESULTS The patient presented with localized, spider-like, erythematous and hyperpigmented skin lesions on the lower abdomen and on both thighs. Repetitive exposure to heating pads can induce reticular and macular hyperpigmentation with telangiectases without squamation. Strict avoidance of heat is advised, because there is no effective treatment. DISCUSSION EAI is described in patients with an eating disorder. Facing an increased pain threshold, prolonged heat exposure to treat a general feeling of cold, can induce this dermatosis.

Long-term follow-up on the effect of combined therapy of bile acids and statins in the treatment of cerebrotendinous xanthomatosis: A case report

Cerebrotendinous xanthomatosis (CTX; OMIM 213700) is a rare utosomal recessive inborn error caused by a deficit in bile acid synhesis. A deficiency of the enzyme sterol 27-hydroxylase causes the ccumulation of cholesterol and cholestanol in virtually all tissues. he molecular defect is localized to mutations of the CYP27A1 gene chrom. 2q33-qter), causing a variety of associated symptoms [1]. ystemic and neurological symptoms include intractable diarrhea, uvenile cataracts, tendon xanthomas, and progressive neurologic igns and symptoms. The systemic features typically appear at an arlier age than the neurological manifestations. The principal treatment for CTX is chenodeoxycholic acid CDCA), which inhibits excessive cholesterol and cholestanol ynthesis. Statins are currently thought to be beneficial, when comined with CDCA, yet this remains to be proven. Symptomatic herapies are also important.

Cognitive functioning and psychiatric disorders in children with a metabolic disease

ObjectiveTo report on the intelligence scores and the psychiatric pathology of distinct groups of children with metabolic diseases.MethodsThe study population consists of 53 children between 0 and 18 years of age. Diagnostic assessment included a semi-structured interview, self-report questionnaires and a standard intelligence test.ResultsIn 40% of the children older than 5 years, a child psychiatric diagnosis was made. While CBCL total and internalizing scores did not differ between metabolic disease groups, the CBCL externalizing scores for some groups did. Two fifths of the children showed a below normal intelligence, while a performal–verbal IQ discrepancy was found in half of the children. Of the school aged children almost one third attended a special needs school.ConclusionIn spite of the small sample size, the results suggest substantial psychiatric problems in children with a metabolic disease. Further study on larger groups is warranted, which should enable further comparison of patients affected by specific metabolic diseases.

Food Refusal, Loss of Appetite, Chronic Fatigue and Depression dueto Central Adrenal Insufficiency Presenting as Anorexia Nervosa in anAdolescent Girl

The estimated prevalence of secondary and tertiary (central) adrenal insufficiency is 150-280 per million [1]. A lot of processes that involves the hypothalamus and which interferes with CorticotrophinReleasing Hormone (CRH) secretionare hypothalamic tumors, surgery, irradiation and autoimmune hypothalamic disease will result in central adrenal failure.

Ferritin and body mass index predict cardiac dysfunction in female adolescents with anorexia of the restrictive type

Background and aim Decreased left ventricular mass index in anorexia nervosa is amply reported. The aim of this study is to identify nonburdensome predictors of reduced left ventricular mass/height2.7 (cLVM) in a cohort of adolescent restrictive anorexic girls. Methods This is a retrospective study of all anorexic girls of the restrictive type referred to our tertiary eating disorder unit between September 2002 and December 2012, for somatic assessment of weight loss. All subjects fulfi lled DMS-IV criteria, without a family history of cardiac or cardiovascular diseases. Results In all, 283 restrictive anorexic girls (age: 14.63 ± 1.65 y; body mass index: 15.72 ± 1.81 kg/m²) were included. Ferritin and body mass index were independent, statistically signifi cant predictors of the corrected left ventricular mass (P < 0.05). Conclusion Decreased cLVM is very common in anorexia nervosa of the restrictive type. Two factors predicted decreased cLVM in our population: ferritin and BMI.

Girl With Tyrosinemia Type 1 and Executive Dysfunctions Treated With Methylphenidate: A Case Report

Hereditary tyrosinemia type 1 (HT1; OMIM 27670) is an inborn error of tyrosine metabolism, caused by a deficiency of the enzyme fumarylacetoacetate hydrolase. This defect leads to accumulation of t...