Pediatr. Rep., Volume 9, Issue 3 (October 2017) – 6 articles

We report definitive diagnosis and effective treatment with oral cholic acid in one Italian male child affected by 3β- hydroxy-Δ5-C27-steroid dehydrogenase (3β- HSD) deficiency. He presented with failure to thrive, hepatomegaly and multiple cystic images in kidneys; no biochemical evidence of cholestasis. Large amounts of bile acid metabolites was detected in urine by fast atom bombardment ionization mass spectrometry (FAB-MS). HSDH3B7 gene analysis identified one mutation in intron 4, at nucleotide 432, G>A substitution that has never been reported before.The replacement therapy with oral cholic acid started early after the diagnosis and is still ongoing. Three years later hepatomegaly is no longer evident, liver function is normal and the child is growing regularly. In our experience, clinical features of 3β-HSD deficiency can be very poor and even cholestasis can lack at diagnosis. Early replacement therapy with cholic acid is safe and leads to clinical and biochemical control of the disease. Full article

Septicemia is one of the major causes of mortality and morbidity in newborns. The aim of this study was to investigate the role of interleukin-6 (IL-6) in the early diagnosis of Sepsis in premature newborns. This cross-sectional study was conducted on preterm infants admitted to NICU of Hospital Buali in Ardabil city, Iran. C-reactive protein (CRP), IL-6 and complete blood count tests have been done in baseline, third and seventh day. Collected data analyzed by one-sample t-test, repeated measures and ANOVA in SPSS.21. The mean of IL-6 in the first and third day after hospitalization was significantly more than normal value. The mean of CRP in the third and seventh day after hospitalization significantly more than normal value. We found that increasing in IL-6 level can occur earlier than CRP and it can be used as a good index in early sepsis diagnosis compare than CRP. Full article

Dyskeratosis congenita (DC) is an inherited bone marrow failure disorder characterized by mucocutaneous features (skin pigmentation, nail dystrophy and oral leukoplakia), pulmonary fibrosis, hematologic and solid malignancies. Its severe form, recognized as Hoyeraal-Hreidarsson syndrome (HHS), also includes cerebellar hypoplasia, microcephaly, developmental delay and prenatal growth retardation. In literature phenotypic variability among DC patients sharing the same mutation is wellknown. To our knowledge this report describes for the first time a family of DC patients, characterized by a member with features of classic DC and another one with some features of HHS, both with the same mutation in DKC1. Our family confirms again that one mutation can be associated with different phenotypes and different hematological manifestations. It’s possible to speculate that there are likely to be patients who do not clinically fit neatly into either classical DC or HHS, but whose clinical features are due to mutations in DKC1 or in genes responsible for autosomal DC/HHS. Full article

Vitiligo is a dermatological disease; its exact prevalence is unknown among the paediatric population. We are reporting a case of vitiligo at birth for the first time in Burkina Faso, in the Teaching Hospital Souro Sanou of Bobo-Dioulasso, Paediatric Department. He is a male child, born from HIV-1 positive parents; we received him when he was 2 months to be followed in connection with the prevention of motherto- child transmission. He showed achromic lesions on the skin and on skin appendages at birth. In addition to congenital vitiligo we mentioned, several diagnostic hypotheses were discussed. No treatment was decided to face these skin lesions given the very young age of the patient. Psychological support is planned in the long run. Full article

Benign intra-abdominal cystic masses in infancy are fairly uncommon and their etiopathogenesis, histology and clinical presentation differ significantly. Our aim is to report our experience in their treatment in order to discuss the best diagnostic and treatment modality. The medical records of 5 children (2M, 3F) with cystic intraabdominal masses referred to our hospital between November 2012 and September 2016, were retrospectively reviewed. All patients underwent open surgery and subsequent histopathologic analysis. Different clinical presentations, localizations of the masses, diagnostic tools, surgical approaches, histological examinations and outcomes were reviewed. Patients mean age was 5.4 years (range: 8 months-9 years). Two patients presented recurrent abdominal pain and abdominal distension; 1 patient had a palpable mass discovered incidentally and 2 complained acute abdominal pain. Routine laboratory tests, tumor markers and abdominal ultrasound were immediately done in all patients. Three patients underwent MRI and 1 abdominal CT. At laparotomy 2 hepatic cysts, 2 mesenteric cyst and 1 retroperitoneal cyst were discovered. Histology reports described: 1 hepatobiliary cystadenoma, 1 benign hepatic hamartoma and 3 cystic lymphangiomas (1 retroperitoneal and 2 mesenteric). There were no major postoperative complications, deaths, or recurrences in our series (follow-up 3-24 months). Despite the rarity of these lesions, benign cystic abdominal masses in children are not so uncommon and should be considered as causes of acute abdominal pain. The differential diagnosis is not always possible preoperatively. In our series, radical excision of the lesions was possible in all cases, allowing reliable histological results and avoiding recurrences. Full article

A 3-year-old girl with Spinal Muscular Atrophy type I presented with a right pneumonia. On physical examination pulmonary auscultation revealed an asymmetry of breath sounds between the 2 hemithoraces, owing to decreased breath sounds in the right hemithorax. Blood tests were normal. The initial working diagnosis was a suspected area of mucus accumulation. A treatment with Free Aspire was started. Within a few days, the girl was discharged with a normal physical examination and X-ray study result. Spinal Muscular Atrophy is a rare neuromuscular disorder characterized by loss of motor neurons and progressive muscle wasting. Cough in these patients result ineffective. Free-Aspire is an electromedical machine for removing bronchoalveolar secretions. The case show that Free Aspire in patients with ineffective cough and impaired removal of secretions is a safe and effective device for the removal of bronchial secretions and could be an another help in the management of airway clearance. Full article