We screened for the presence of inborn errors of metabolism (IEM) in 187 children (105 males; 82 females, ages 4–14 years old) who presented with confirmed features of autism spectrum disorder (ASD). Twelve patients (7%) manifested increased 3-hydroxyisovaleric acid (3-OH-IVA) excretion in urine, and minor to significant improvement in autistic features was observed in seven patients following supplementation with biotin. Five diagnoses included: Lesch Nyhan syndrome (2), succinic semialdehyde dehydrogenase (SSADH) deficiency (2), and phenylketonuria (1) (2.7%). Additional metabolic disturbances suggestive of IEMs included two patients whose increased urine 3-OH-IVA was accompanied by elevated methylcitrate and lactate in sera, and 30 patients that showed abnormal glucose-loading tests. In the latter group, 16/30 patients manifested increased sera beta hydroxybutyrate (b-OH-b) production and 18/30 had a paradoxical increase of sera lactate. Six patients with elevated b-OH-b in sera showed improved autistic features following implementation of a ketogenic diet (KD). Five patients showed decreased serum ketone body production with glucose loading. Twelve of 187 patients demonstrated non-specific MRI pathology, while 25/187 had abnormal electroencephalogram (EEG) findings. Finally, family history was positive for 22/187 patients (1st or 2nd degree relative with comparable symptomatology) and consanguinity was documented for 12/187 patients. Our data provide evidence for a new biomarker (3-OH-IVA) and novel treatment approaches in ASD patients. Concise 1 sentence take-home message: Detailed metabolic screening in a Greek cohort of ASD patients revealed biomarkers (urine 3-hydroxyisovaleric acid and serum b-OH-b) in 7% (13/187) of patients for whom biotin supplementation or institution of a KD resulted in mild to significant clinical improvement in autistic features.
Cervical lymphadenopathy (CL) is common in childhood. The aim of this study is to evaluate the etiology, follow-up, and treatment of persistent CL. The authors studied retrospectively 50 children with CL, hospitalized at the Department of Pediatrics and Pediatrics Surgery. Patients underwent ultrasonography. Thirty-six percent presented abnormal ultrasonographic image and underwent excisional biopsy. Biopsies revealed 4 thyroglossal cysts, 3 branchial cysts, 1 hemangioma, 2 sebaceous cysts, 1 dermoid cyst, 5 occurrences of tuberculosis lymphadenitis, 1 occurrence of Bartonella henselae lymphadenopathy, and 1 case of non-Hodgkin lymphoma. In conclusion, CL is usually a benign finding; bacterial and viral infections are the most common causes. Ultrasonography help in etiology and follow-up of CL.
This review covers the topics of genetics, epigenetics, pathophysiology, phenotypes and treatment as they relate to childhood asthma. Overall, it provides a basis for the future of asthma treatment through description of the current research.
Cervical lymphadenopathy (CL) is common in childhood. The aim of this study is to evaluate the etiology, follow-up, and treatment of persistent CL. The authors studied retrospectively 50 children with CL, hospitalized at the Department of Pediatrics and Pediatrics Surgery. Patients underwent ultrasonography. Thirty-six percent presented abnormal ultrasonographic image and underwent excisional biopsy. Biopsies revealed 4 thyroglossal cysts, 3 branchial cysts, 1 hemangioma, 2 sebaceous cysts, 1 dermoid cyst, 5 occurrences of tuberculosis lymphadenitis, 1 occurrence of Bartonella henselae lymphadenopathy, and 1 case of non-Hodgkin lymphoma. In conclusion, CL is usually a benign finding; bacterial and viral infections are the most common causes. Ultrasonography help in etiology and follow-up of CL.
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