VACTERL association with a rare vertebral anomaly (butterfly vertebra) in a case of monochorionic twin.

The VATER/VACTERL association is typically defined by the presence of at least three of the following congenital malformations: vertebral anomalies, anal atresia, cardiac malformations, tracheo-esophageal fistula, renal anomalies, and limb abnormalities (13). We report a rare case of a monochorionic twin gestation in which one of the infants had VACTERL association. Antenatal ultrasound showed bilateral renal dysplasia and cardiac anomaly (ASD) in twin A. Twin A was noted to have the following anomalies: a single umbilical artery, limb anomaly (right hand preaxial polydactyly), vertebral anomalies (T9 and T11 butterfly vertebras, bilateral renal agenesis, bladder agenesis, anal and urethral atresia. A normal-sized stomach and normal amount of amniotic fluid were observed during the prenatal period with no other anomalies. Twin B (male) was healthy and no cardiac, renal, or congenital anomalies were demonstrated on ultrasound and physical examination. Infant A was also diagnosed as having VACTERL association because he had five of the core anomalies (V, A, C, R, L) of VACTERL association. Butterfly vertebra is an uncommon congenital spinal anomaly. To the best of our knowledge, our patient is the second case VACTERL association with butterfly vertebra in the literature.

A selective IgA deficiency in a boy who presented recurrent parotitis.

Recurrent parotitis is a non-obstructive, non-suppurative inflammatory disease which is characterized by unilateral or bilateral parotid gland swelling attacks. It is also known as juvenile recurrent parotitis. Although the etiology is unknown, congenital malformations of the ductus, genetic predisposition, infections, allergies, autoimmune diseases, and some immune deficiencies are blamed. Here, we present a case report of recurrent parotitis with selective immunoglobulin A deficiency in a six-year-old boy. The patient was presented to us with a new episode of swelling of left parotid region. In the last 2 years, the patient suffered from recurrent parotitis which lasted for approximately 5 days in ten individual episodes.

Heart rate variability analysis reveals a shift in autonomic balance towards an increase in parasympathetic tonus in boys with undescended testis.

AIM: Evaluations of sacs and cremaster muscles associated with undescended testis (UT) have revealed a decrease in sympathetic, but an increase in parasympathetic tonuses. Since the low frequency/high frequency power ratio obtained through spectral analysis of heart rate variability (HRV) determines the sympatho-parasympathetic balance, the sympatho-parasympathetic balance as defined by HRV in healthy boys and in boys with UT were compared. MATERIAL AND METHODS: Sixteen healthy boys and 21 boys with UT presenting as an isolated anomaly were evaluated. Powers in low and high frequency bands were determined by spectral analysis, and low frequency/high frequency ratios were calculated. Data were compared by analysis of variance, and p-values less than 0.05 were considered significant. RESULTS: Age distribution in the groups was similar. Low frequency/high frequency ratios were 2.27+/-1.84 and 1.26+/-0.79 in healthy boys and in boys with UT, respectively (p=0.0087). CONCLUSION: The autonomic balance is shifted with a decrease in sympathetic and an increase of parasympathetic tonus in boys with UT. This difference in signaling may help to understand the decrease in fertility, and the increase in the risk of malignancy in men with UT.