A rare case of Sjogren-Larsson syndrome with recurrent pneumonia and asthma / 소아과

Sjogren-Larsson syndrome (SLS) is a rare autosomal recessive neurocutaneous disorder with worldwide incidence of 0.4 per 100,000 people. It is characterized by the triad of congenital ichthyosis, spastic diplegia or quadriplegia, and mental retardation. Herein we report a 2-year-old male child with SLS, asthma, and recurrent pneumonia. SLS was confirmed by a molecular genetics study that revealed a deletion mutation in the ALDH3A2 gene. An ALDH3A2 gene mutation results in dysfunction of the microsomal enzyme fatty aldehyde dehydrogenase and impaired metabolism and accumulation of leukotriene B4, which is a key molecule and a pro-inflammatory mediator in developing allergic diseases, especially asthma. An increased level of leukotriene B4 has been reported in SLS patients. As far as we are aware, this is the first report of SLS associated with asthma and recurrent pneumonia. In conclusion, pediatricians should be aware of and evaluate patients with SLS for possible associated asthma and allergic disorders.

Migraine and tension-type headache in children and adolescents presenting to neurology clinics

Headache is one of the most common neurologic problems in children and adolescents. Primary headache including migraine and tension-type headache comprises the vast majority of headaches and are associated with marked incidence, prevalence, and individual and social cost. We aimed to assess demographic characteristics and to compare some factors related to primary headaches in children/ adolescents presented to neurology clinics of Tabriz University of Medical Sciences. Children from 4 to 15 years of age with the diagnosis of primary headache [migraine or tension-type headaches] who presented to the neurology clinics affiliated to Tabriz University of Medical Sciences, Tabriz, Iran from March 2009 to October 2011 are included in this cross-sectional study. Data regarding the type of headache, history of atopy, peripartum asphyxia, and breast feeding, family history of headache and the socioeconomic status of the family were collected. The diagnosis was based on the international headache society diagnostic criteria for the primary headache disorders. One hundred ninety children [107 females] with primary headache [88 patients with migraine and 102 patients with tension type headache] enrolled in the study. Peripartum asphyxia, history of atopy, family history of headache and low socioeconomic status [SES] were more common in patients with migraine [P-vaiues: 0,007,0.01, 0.001, 0.003; respectively]. Physicians need to extent their knowledge regarding the primary headaches. Peripartum asphyxia, history of atopy, headache in parents and low SES have been shown in the present study to be more prevalent in patients with migraine as compared to tension-type headache

Severe hypertension and encephalopathy due to renin- producing hepatoblastoma

Paraneoplastic syndromes result from secretion of hormones, peptides or cytokines by tumor or immune cross-reactivity between malignant and normal tissues. These conditions are rare in children, but when the clinical presentation of patients with a tumor is unusual, these syndromes should be emphasized. Extrarenal tumors with renin-secretion are rare in children. They may be related to paraneoplastic syndromes. We report a 22-month-old infant with hepatoblastoma presented with severe hypertension and related neurologic symptoms due to high plasma renin activity. To the best of our knowledge, this is the second report of renin producing hepatoblastoma in the literature. However, due to lack of laboratory facilities such as immunohistochemical study or polyclonal antibody for human renin activity, we could not prove the secretion of renin just by tumor tissue cells, but this potentiality is very likely. Other intensive investigations did not show any other origin for rennin secretion or hypertension in this patient

[Association between Poland syndrome and autistic disorder: a case report]

The aim of the current study was to report associated problems of Poland Syndrome in a patient. A 5 years old son affected to Poland Syndrome was accurately assessed. The results showed the patient had communication, verbal and behavioral problems besides Poland Syndrome. Also, he received attention deficit hyperactivity disorder diagnosis and had seizure history. After accurate assessment, autistic disorder was diagnosed and occupational and speech therapy was prescribed besides treating seizure and symptoms of other problems. When a patient is being referred because of hyperactivity, s/he should be accurately evaluated and assessed for other psychiatric problems