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Spontaneous periodic episodes of hypothermia still defy medical knowledge. In 1969, Shapiro et al. described the first two cases of spontaneous periodic hypothermia associated with agenesis of the corpus callosum. Recently, Dundar et al. reported a case of spontaneous periodic hypothermia and hyperhidrosis without corpus callosum agenesis, suggesting that the periodic episodes of hypothermia might be of epileptiform origin. Here we describe two paediatric patients with spontaneous periodic hypothermia without corpus callosum agenesis and demonstrate, to our knowledge for the first time, altered levels of neurotransmitter metabolites within the cerebrospinal fluid.Hypothermia, defined as a core temperature lower than 35°C, may be the result of several conditions: accidental causes (drugs, intoxication, exposure to extreme cold temperatures); endocrine conditions (hypothyroidism); and central or peripheral neurological disorders. 1,2Spontaneous periodic episodes of hypothermia, however, still defy medical knowledge. In 1969, Shapiro et al.3 described the first two cases of spontaneous periodic hypothermia associated with agenesis of the corpus callosum.Since then, over 50 cases have been reported with several attempts to undercover its pathophysiology.2 Structural, epileptiform, or biochemical abnormalities were suggested as possible causes; however, the definite underlying process remains unclear.Recently, Dundar et al. 1 reported a case of spontaneous periodic hypothermia and hyperhidrosis without corpus callosum agenesis, suggesting that the periodic episodes of hypothermia may be of epileptiform origin.We describe two paediatric patients with spontaneous periodic hypothermia without corpus callosum agenesis and demonstrate, to our knowledge for the first time, altered levels of neurotransmitter metabolites within the cerebrospinal fluid. The São Paulo hospital ethics committee approved this clinical letter and the parents gave informed consent for publication. CASE REPORTS Case 1A 4-year-old female was admitted with spontaneous episodes of dysthermia (hyper-and hypothermia), sweating, and drowsiness of about 2 week's duration. The attacks occurred daily, lasted about 1 to 3 hours and presented spontaneous remission, regardless of any therapeutic attempt (Table I). During the hypothermic attacks, she sweated profusely and felt faint; her skin was pale and cool. The physical examination was otherwise normal. She was born of non-consanguineous parents, with an uneventful gestational and neonatal history. She also showed normal neurodevelopment and there was no family history of neurological disorders.Laboratory findings included hematocrit at 35%, hemoglobin at 13.1g ⁄ dL, a white blood cell count of 9200 ⁄ mL, and a platelet count of 193 000 ⁄ mL. Blood urea nitrogen, serum creatinine, liver function tests, fasting blood sugar, serum electrolytes, serum uric acid, erythrocyte sedimentation rate, C-reactive protein, thyroid function tests, adrenocorticotropic hormone, and urinalysis produced normal results. Elect...

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Psychiatric comorbidity in patients with headache contributes to poorer prognosis, chronification of disease, poor response to treatment, increased cost of treatment, and decreased quality of life. The purpose of the present study was to evaluate the depressive symptoms in adolescents with chronic and episodic migraines and healthy adolescents. The study was performed between November 2010 and November 2011. All patients completed a detailed headache questionnaire comprising of demographical and clinical data and were instructed to fill out a headache diary over a 2-month period. The subjects ranged in age from 13 to 19 years. To evaluate depression symptoms, all of the subjects were asked to fill out the Beck Depression Inventory (BDI). A total of 137 participants were evaluated; 44 had episodic migraine (EM), 46 had chronic migraine (CM) and 47 were control subjects. Patients with a history of chronic migraine had significantly higher scores on the BDI than the other participants. Patients with chronic migraine had BDI scores that were 8.8 points higher than controls [95 % CI (β) = 5.0, 12.6] and 5.8 points higher than patients with EM [95 % CI (β) = 2.2, 9.4]. The main finding of this study was that chronic migraine is strongly associated with depression symptoms, regardless of demographic data. Comorbid depression may increase the total burden of migraine and diagnosis and treatment of depression in adolescents with migraine is likely to result in a better prognosis.

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Background Background: Ataxia telangiectasia is one of the most common causes of autosomal recessive cerebellar ataxias. However, absence of telangiectasia, normal levels of alpha-fetoprotein and negative genetic test may direct to alternative diagnosis with similar phenotypes such as ataxia telangiectasia-like disorders (ATLD). Cases Cases: We report two instructive cases of ATLD: the first case with ataxia telangiectasia-like disorder type 1 related to MRE11A gene, and the second case with ataxia telangiectasia-like disorder type 2 related to PCNA gene. Literature Review Literature Review: ATLD is an unusual group of autosomal recessive diseases that share some clinical features and pathophysiological mechanisms with ataxia telangiectasia (AT). ATLD may be associated with mutations in the MRE11A (ATLD type 1) and PCNA (ATLD type 2) genes. ATLD belongs to the group of chromosomal instability syndromes. The reason for the term ATLD is related to the similar pathophysiological mechanisms observed in AT, which is characterized by chromosomal instability and radiosensitivity. Conclusions Conclusions: In this review, the main clinical features, biomarkers, brain imaging and genetics of ATLD are discussed. Mutations in the MRE11A and PCNA genes should be included in the differential diagnosis for early onset cerebellar ataxia with absence of telangiectasia and normal levels of alpha-fetoprotein.

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