Apparent life-threatening events in neonatal period: clinical manifestations and diagnostic challenges in a pediatric referral center

Apparent Life-Threatening Events [ALTEs] is an episode that is frightening to the observer and is characterized by some combination of apnea, color change, altered muscle tone, choking, and gagging. This study was designed to evaluate and follow up neonates who presented with clinical manifestation of an ALTE in a year. In this prospective observational study, all of the neonates with episode of ALTE who were admitted to the Children's Medical Center [CMC] in Tehran, from June 15[th] 2010 to May 14[th] 2011 were enrolled in the study. Data from patients consisting of history, physical examinations, and paraclinical findings were recorded in a checklist and all followed up 3 to 6 months after discharge. During the study period 18 neonates were admitted due to ALTE episode[s] with mean age of 15 +/- 13 days. Nine [50%] neonates had previous attacks of ALTE. The most frequent complaint was cyanosis in 12 [67%] and apnea in 8 [44%] patients. In 10 [56%] the event lasted less than one minute, 13 [72%] were awake, 17 [95%] in supine position and 13 [72%] on their parent's lap. Primary antagonistic impression on admission was sepsis in 11 [61%] and concomitant seizure in 5 [28%]. The most common final diagnosis according to repeated physical examinations, result of paraclinical investigations and follow up was sepsis 4 [22%] and aspiration 9 [50%]. ALTE recurred in none of the neonates during follow up. The rate of ALTE seems to be higher than in this study owing to high incidence of recurrent ALTE. Although most of these attacks regress spontaneously, more attention should be paid for the underlying diseases

[Testicular feminization in two siblings; is this the same mutation?]

Complete form of androgen insensitivity was first described by Morris and Mahesh in 1960s. This X-linked trait occurs in one of 20,000 to 64,000 male births. Androgen receptor gene is located on the short arm of the X chromosome. 200 mutations are known at this locus. External genital tract is phenotypically feminine with short blind vagina. Uterus, often Fallopian tubes, Millerian and Wolffian remnants are absent. End organ insensitivity leads to sparse pubic and axillary hair. Patients often present as adolescent girls with primary amenorrhea and bilateral inguinal hernia. Third offspring of a first cousin marriage was assessed in routine neonatal examination a few hours after birth. Systemic physical examination was normal, external genital tract had normal female appearance. There was a bilateral direct inguinal hernia containing ovoid masses. Karyotype was 46XY. The first offspring was 15 years old and raised as female, with history of bilateral orchiectomy and herniorrhaphy in early infancy. Recent laparoscopy showed that uterus was absent. Karyotype was 46XY. Other sibling was a normal male with 46XY karyotype and coincidental idiopathic nephrocalcinosis. May be these are same mutations on the same gene locus. DNA analysis and sequencing will clear this dilemma. Ocurrence of androgen insensitivity has been reported in literature for 3 decades. In the recent decade, authors achieved the ability to clarify the mutations completely. DNA sequencing and assessing 5 alpha reductase activity in genital skin fibroblasts in these two siblings is strongly recommended