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  • ISSN: 2373-9312
    A Novel Mutation in the L1CAM Gene: A Tale of Two Brothers
    Authors: Samuel Levi, Leina Alrabadi, Preeti Singh, Angela Flores* and Vijay Tonk
    Abstract: L1 syndrome encompasses a spectrum of conditions that includes a common clinical finding of congenital hydrocephalus and X-linked inheritance. L1CAM is the only gene implicated in this condition. Approximately 247 different mutations have been reported in 300 families.
    Proptosis is a Pediatric Dilemma
    Authors: Altonbary Y, Mansour AK, Sarhan M, Alwakeel AA, Abdelmabood S, Elmahdi HS and Darwish A
    Abstract: Childhood proptosis is quite different from that of the adult. While thyroid orbitopathy is the most common cause in adults, proptosis among children can be caused by: infection, inflammation, vascular and developmental malformation and finally malignancies.
    Latest Articles
    Case Report
    Kamel Shibbani, Ramzi Hamzeh, and Rana Sharara-Chami*
    As the Syrian conflict rages on, more and more innocent civilians are fleeing their homes in pursuit of safety. The numbers of Syrians refugees that have left their country encroaches on 5 million, more than a quarter of them in Lebanon. These families, and by extension their children, live in suboptimal conditions in Lebanon, as there are no formal refugee camps. Refugee status increases the risk of development of psychological and organic disorders. Our manuscript sheds light on the grim situation of Syrian families and children in Lebanon through a case of Munchausen Syndrome By proxy in a Syrian refugee family.
    Gena Schubert*, Gabrielle Karpinsky, Zhihong Wang, and Chaya Pitman-Hunt
    We report a rare case of neuroblastoma with Opsoclonus Myoclonus Ataxia (OMA) and Horners syndrome in a previously healthy 17-month-old female who presented with titubations and a wide based gait. The patient had an initial negative workup including urine catecholamines. After further investigation, including a Magnetic Resonance Imaging (MRI) of the spine, neuroblastoma was revealed. This case emphasizes the importance of having a high suspicion for neuroblastoma despite negative urine catecholamine metabolites, especially when associated with OMA and Horners syndrome. Prompt treatment along with consultation with oncology is imperative to improve survival outcomes.
    Swosti Joshi*, Mopelola S. Akintorin, and Vanessa Davis
    Cytomegalovirus (CMV) is the most common cause of congenital infection. It is the leading infectious cause of infant hearing loss and neurologic deficits. Besides these, CMV infection has a wide spectrum of manifestations including thrombocytopenia, hepatitis, chorioretinitis, sensorineural hearing loss, intrauterine growth retardation and intellectual disability. Sometimes rare features like muscular paralysis of diaphragm and diabetes insipidus have been associated with CMV infection. Few cases of diaphragmatic eventration in a newborn with CMV infection have been reported. The CMV-infected neonate presented in this report had diaphragmatic eventration and later developed diabetes insipidus. With subsequent treatment of the CMV infection, the infant showed spontaneous resolution of the diabetes insipidus. This is a rare case of a CMV infected neonate who had hearing impairment, intra-uterine growth retardation, diaphragmatic eventration and diabetes insipidus.
    Research Article
    Elizabeth A. Jimenez*, Virginia F. Wright, Jessica Brian, Michelle Shouldice, Michelle Gordon, Sarah Barker, Nicky Jones-Stokreef, Janine Flanagan, Lisa Feitelberg, Suzanne Stead, Pamela Green, Rachel Barber, and Wendy S. Roberts
    Existing direct diagnostic tools for ASD tend not to be practical for use by most community paediatricians. We examined the potential of using selected activities modified from the Autism Diagnostic Observation Schedule (ADOS) to inform diagnostic decision-making.
    Objectives: We evaluated the use of a unique, specially designed observation form and scoring guide (Pediatric Autism Early Diagnosis Tool; PAED), and then compared the diagnostic results with the validated ADOS Module 1. Completing a diagnostic assessment using this new method does not involve the complex scoring normally required with the ADOS, thus making it much more accessible for pediatricians to learn.
    Methods: Twenty-eight pre-verbal children (mean age 33.6 months; SD=9.5m) referred to community clinics were assessed on the abbreviated process/PAED Tool and on the standard ADOS on separate visits. Both diagnostic methods included a detailed developmental history for ASD. A DSM-IV-TR diagnostic category was assigned for each approach. Videotaped sessions were scored by independent raters for PAED Tool reliability.
    Results: PAED Tool inter-rater reliability was excellent using a video-scoring approach (ICC=0.86). Classification agreement between evaluation methods was excellent (weighted kappa=0.83), and sensitivity and specificity were both high (91%-100%).
    Conclusions: When used with a detailed history and physical examination, the abbreviated battery and PAED Tool yielded good diagnostic accuracy. Further trials will involve DSM-5 modifications.
    Case Report
    Rita Padoan, Piercarlo Poli*, Luca Tonegatti, and Diego Falchetti
    Recurrent intestinal obstructions are frequently reported in Cystic Fibrosis patients at any age. The most frequent diagnoses are constipation and distal ileal obstruction syndrome, however in previously operated patients, post-surgical adhesions must be considered in the differential diagnosis of recurrent abdominal pain. We report the case and the follow-up of a 4-years-old Cystic Fibrosis child with recurrent intestinal obstruction after neonatal abdominal surgery for meconium ileus. The decision making process to treat symptoms is described. The chosen surgical procedure proved to prevent any further occlusive episode in a ten years follow up.
    Baruch Goldberg*
    This case report highlights the importance of working through a differential diagnosis when a child presents with arthritis or enthesitis, as Juvenile Idiopathic Arthritis (JIA) is a diagnosis of exclusion. A twelve-year-old girl presented to clinic with chronic arthralgias, most notably in her ankles. Some of her symptomatology was characteristic of inflammatory arthritis - morning stiffness and limp. However, the pain was also worse with activity, better with rest, and with occasional night awakenings. Her physical exam revealed no arthritis but she did have enthesitis with swelling, warmth and tenderness over her posterior-lateral malleolus. Nonsteroidal anti-inflammatory drug (NSAID) therapy was started and she had blood work to further investigate the etiology of her enthesitis. Diagnostic considerations were concerning for HLA B27 associated enthesitis related arthritis, psoriatic JIA, Inflammatory bowel disease and chronic recurrent multifocal osteomyelitis. Laboratory findings showed elevated ESR and CRP consistent with inflammation. HLA B27, Rheumatoid Factor and ANA were negative. Her blood count showed mild leukocytosis and anemia. Her differential revealed 17% atypical lymphocytes and 30% blasts. LDH was 251 u/l [normal range 98-192u/l] and uric acid was 6.9 mg/dl [normal range 2.5-7.0mg/dl]. Her peripheral smear showed increased circulating blasts and flow cytometry was consistent with B cell Acute Lymphoblastic Leukemia. The importance of this case is to remember that musculoskeletal symptoms may precede constitutional symptoms in children with leukemia. Thus, it is essential to rule out other differentials prior to diagnosing JIA, especially prior to initiation of steroid or immunosuppressive therapies.
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