Aberrant umbilical vein

In a female premature baby an aberrant umbilical vein was identified after catheterization of the umbilical vessels. This rare variation of the umbilical vessels consists of a connection between the umbilical vein and the inferior vena cava.     

Microangiopathy of brain, retina, and inner ear (Susac's syndrome) in an adolescent female presenting as acute disseminated encephalomyelitis

Susac's syndrome is a rare disorder that consists of microangiopathy of the brain, retina, and inner ear and usually affects young women in young adulthood. The triad of clinical manifestations consists of acute encephalopathy with neurologic signs, branch retinal artery occlusion (BRAO), and sensorineural hearing loss. We present a case of an adolescent female who presented at age 16 years with clinical and neuroimaging features of acute disseminated encephalomyelitis (ADEM). The full triad did not develop until 2.5 years after the initial neurologic presentation.     

Urethral diverticulum in a female child

A urethral diverticulum in a female arises from the wall of the urethra and consists mainly of fibrous tissue lined with epithelium. It is uncommon, and usually presents between decades 3 and 5. Most patients present with non-specific, refractory, lower urinary tract symptoms, unrelated to the diverticulum size or number. The diverticulum may also present as a mass at the introitus. We report a case of urethral diverticulum in a female child that presented as an introital mass.     

Complex urogenital malformation associated with female pseudohermaphroditism: caudal dysgenesis syndrome

Caudal dysgenesis syndrome is a rare cause of female pseudohermaphroditism. This syndrome consists of absent perineal and anal openings in association with ambiguous genitalia, urogenital, colonic, and lumbosacral anomalies. We report a case of caudal dysgenesis syndrome in an infant who had non-palpable testes, bifid scrotum, a phallus-like structure and urethral atresia. Radiological evaluation revealed bilateral hydronephrosis, bifid uterus, cervix and vagina. Caudal dysgenesis syndrome should be considered in any female infant presenting with bilateral streak ovaries, and Müllerian and genito-urinary anomalies.     

Complete androgen insensitivity syndrome: diagnosis and clinical characteristics

Complete androgen insensitivity syndrome (CAIS) is a genetic disease caused by mutations in the androgen receptor gene. CAIS patients are individuals with a 46, XY karyotype. The phenotype consists in female external genitalia, short vagina, absent mullerian structures, and abdominal, inguinal or intralabial testes. Our aim is to describe a group of CAIS patients in our centre and identify the difficulties in the diagnosis. The amount of patients with inguinal hernia in childhood was remarkable (83%). Interestingly, the diagnosis was suspected later when patients presented primary amenorrhea. CAIS must be suspected every time a female child shows inguinal hernia. Early diagnosis is very important for a correct genetic counseling.     

Occipital osteodiastasis

Occipital osteodiastasis (OOD) is a prominent traumatic lesion in neonates born by breech, during delivery of after coming head. The lesion consists of traumatic separation of the cartilaginous joint between the squamous and lateral portion of the occipital bone resulting in a posterior fossa subdural haemorrhage associated with laceration of the cerebellum. We report a term female baby with OOD born by breeach extraction with X-ray skull showing separation of squamous and lateral portion of occipital bone and NCCT brain revealing large extra axial bleed in the right temporo-parieto-occiptal region.     

Currarino syndrome: an association not to be overlooked]

The Currarino triad consists of an anorectal malformation, a presacral tumor and a sacrum defect. A new case is reported in a female neonate. The diagnosis was suspected because of delayed emission of meconium associated with an occlusion syndrome. It was confirmed by bone imaging, ultrasonography and magnetic resonance imaging. A colostomy was performed on day 7 then closed on day 43 after several rectal dilation were carried out. A presacral lipoma was operated on at 10 months. The 56 cases reported in the literature are reviewed.     

Partial deletion of the long arm chromosome II in Jacobsen syndrome

The Jacobsen syndrome (11q23←11gter) consists of trigonocephaly, facial dysmorphism, mental retardation, and hypotonia. Seventeen patients with this syndrome have been reported in literature—fourteen female and three male. This report is the eighteenth case with deletion 11q23→11qter in a 11/2 year old male. Such a case has not been reported from India. A review of the reported cases with comparisons of their features has been made.     

Hypergonadotroper Hypogonadismus bei Galaktosämie

Classical galactosaemia due to galactose-1-phosphate-uridyltransferase deficiency is an inherited metabolic disorder with an estimated incidence of 1:40,000 in the Caucasian population. In neonates the disease presents as hepatopathy with cerebral involvement. Without treatment classic galactosaemia leads to cataract, hepatic insufficiency and failure to thrive, and may finally be fatal. Treatment consists of a lactose-free diet. Despite early initiation of dietary treatment and long-term compliance, more than 80% of female patients develop hypergonadotropic hypogonadism. This paper aims to give practical recommendations for diagnosis and treatment of hypergonadotropic hypogonadism in patients with classical galactosaemia.     

Persistent Atrial Standstill in Noncompaction Cardiomyopathy

Atrial standstill is a rare form of bradyarrhythmia and consists of a transitory or permanent loss of the electrical and mechanical activity of the atria. It has been described in a few cases of long-standing valvular disease, amyloidosis, myocarditis, and muscular dystrophy. We report on a young female with noncompaction cardiomyopathy that progressed to congestive heart failure. Electrocardiogram showed persistence atrial standstill that was confirmed clinically and by electrocardiomyopathy, Doppler two-dimensional echocardiogram, and tissue Doppler imaging. We assume that worsening of asymptomatic noncompaction and progression to the congestive form of cardiomyopathy could be presaged by the presence of persistent atrial standstill. Thus, persistence of atrail standstill in asymptomatic cardiomyopathy is a sign of poor prognosis.     

La délinquance des adolescentes : étude comparative entre une population canadienne et algérienne

This paper proposes to compare two researches conducted on the marginality of male and female adolescents in Quebec and Algeria. The Canadian sample consists of 506 adolescent boys and 150 adolescent girls and the Algerian sample includes 79 adolescent boys and 45 adolescent girls. Overall, the results show that girls commit fewer offences than boys and theirs start later. However, for the Algerian girls, serious theft, consumption of psychotropic drugs, sexual promiscuity and prostitution are factors of a serious delinquency. Explanations relating to the context of Algerian culture and society or the nature of the sample are provided. The limitations of this research are discussed.     

Tubular and intestinal phosphate transport in vitamin D-resistant (hypophosphatemic) rickets (author's transl)]

Renal clearance and intestinal absorption studies were performed to investigate the renal and intestinal handling of phosphate under various conditions in two female patients with VDRR. The two types of transepithelial phosphate transport in the renal proximal tubule and intestinal mucosa are discussed. The defective parathormone sensible transport mechanism is slightly depressed under the influence of parathormone and activated after treatment of vitamin D in one patient, in the other no further inhibition by PTH could be observed. Electrolyte excretion in urine remains stable during treatment with vitamin D 3. Therapy consists of administration of oral phosphate and of pharmacologic doses of vitamin D.     

Aicardi syndrome in one dizygotic twin

The Aicardi syndrome consists of infantile spasms, defects of the corpus callosum, dorsal vertebral anomalies, and chorioretinal lacunar defects. The etiology is, as yet, unknown. The most likely cause, however, is an X-linked mutational event that is lethal in males. The first case of the Aicardi syndrome known to occur in one twin is reported. The patient was female and her unaffected sibling was male. This provides strong evidence to support the theory of an X-linked mutational event as the cause of this condition. The typical chorioretinal defects, often difficult to document because these children die at an early age, are clearly illustrated in this report.     

Consider benign Müllerian papilloma: a rare cause of vaginal bleeding in children

Vaginal bleeding in young girls is a distressing symptom. Due to the potential for malignancy, thorough investigation is needed. Though rare, Müllerian papillomas are a benign cause of such symptoms. We report the case of a 2-year-old female who presented with acute onset of vaginal bleeding. She had another episode of bleeding during admission and was taken to the operating room for vaginoscopy under general anesthesia. A single friable lesion with active bleeding was visualized near the anterior vagina or cervix, which was biopsied. Histopathologic examination demonstrated characteristic features of benign Müllerian papilloma of infancy. Müllerian papillomas require examination under anesthesia and vaginoscopy with biopsies for efficient and accurate diagnosis. Treatment consists of complete local excision. Local recurrences are not uncommon, though prognosis for primary or recurrent disease is excellent.     

Angiosarcoma of the Liver in Childhood: A Clinocopathologic and Follow-up Study of 10 Cases

The clinical, morphologic, and follow-up findings in 10 cases of childhood hepatic angiosarcoma are reported. Six patients were female and four were male. The age range was 18 months to 7 years, with a mean of 3.7 years. The usual presenting feature was an abdominal mass, with or without associated symptoms. The histologic pattern of childhood hepatic angiosarcoma typically consists of large hypercellular whorls of spindled sarcoma cells intermingled with bile ducts, vessels, and collagen. Factor VIII staining of tumor cells is focal, cytoplasmic, and weak in character. Intracellular eosinophilic, PAS-positiue globules are present in most cases and may be abundant. The prognosis is poor; follow-up available in seven cases showed only one to be alive 32 months after diagnosis. The remaining six patients had died 0-27 months (mean 10 months) after diagnosis.     

Goldenhar Syndrome in an Infant of Diabetic Mother

Background

Goldenhar syndrome (oculoauriculovertebral dysplasia) is a rare congenital anomaly with unknown etiology and consists of non accidental association of hemifacial microsomia, auricular anomalies, epibulbar dermoid and vertebral anomalies. Although some malformations are more frequent in infants of diabetic mothers, developmental defects of first and second branchial arch is not a common finding in these patients.

Case Presentation

We report a female case of Goldenhar syndrome in a newborn infant of a diabetic mother (IDM). Follow up of this patient after 6 months showed normal neurodevelopment and no evidence of hearing loss. She had developed epibulbar dermoid tumor in her right eye.

Conclusion

It is necessary to evaluate IDM for presence of anomalies implying oculoauriculo-vertebral dysplasia.     

Is urorectal septum malformation sequence a variant of the vertebral defects,anal atresia,tracheo-oesophageal fistula,renal defects and radial dysplasia association? Report of a case and a review of the literature

The urorectal septum malformation sequence (URSMS) consists of multiple systems anomalies including ambiguous genitalia, the absence of a perineal opening, an imperforate anus, and urogenital, colonic and lumbosacral anomalies. We describe a 3-day-old female infant with characteristic URSMS and review its clinical manifestations, outcomes and putative pathogenesis. We also compare its characteristics with those of the vertebral defects, anal atresia, tracheo-oesophageal fistula, renal defects and radial dysplasia (VATER) association. Conclusion:Although defects of the urorectal septum malformation sequence and the vertebral defects, anal atresia, tracheo-oesophageal fistula, renal defects and radial dysplasia association overlap, we believe that they are separate entities. Differentiating the urorectal septum malformation sequence from vertebral defects, anal atresia, tracheo-oesophageal fistula, renal defects and radial dysplasia association is helpful to develop appropriate clinical investigations and search for the aetiology and pathogenesis of these diseases.     

Congenital Adrenal Hyperplasia: Issues in Diagnosis and Treatment in Children

Congenital adrenal hyperplasia (CAH) is a common disorder of impaired adrenal cortisol biosynthesis with associated androgen excess. The clinical presentation of 21-hydroxylase deficiency, the commonest cause of CAH, forms a spectrum and can be divided into classic and non-classic types. The former consists of life threatening salt wasting and non-life threatening simple virilizing phenotypes. Patients with the non-classic form are asymptomatic or have mild features of androgen excess. Most developed countries have newborn screening facilities for CAH. In the absence of newborn screening, the diagnosis of CAH may be missed or delayed. This can result in neonatal mortality in salt wasting forms and incorrect sex of rearing in females with simple virilizing form. The diagnosis is reached by demonstrating high serum 17-hydroxyprogesterone (17OHP) levels. Preterm birth and neonatal illness can cause physiological elevation of 17OHP, thus complicating the diagnosis of CAH in the newborn period. Prenatal diagnosis and treatment with dexamethasone to prevent virilization of affected female fetuses is another area of controversy. The management of CAH is complicated by the need to use supraphysiologic doses of glucocorticoids to suppress adrenal androgen synthesis. In this review, the authors address pertinent issues related to the diagnosis and management of CAH in children.     

Behavioral state affects heart rate response to low-intensity sound in human fetuses

The cardiac orienting reflex is elicited by a low-intensity sound, it consists of a sustained heart rate (HR) deceleration, and it is a specific physiological correlate of cognitive processing. In this study we examined the relationship between behavioral state and the cardiac orienting reflex in 75 human fetuses between 36 and 40 weeks gestation. Each fetus was stimulated with a 30-s speech sound at an average intensity of 83 dB SPL in quiet sleep (QS) and active sleep (AS). The fetal cardiac electrical signal was captured transabdominally at a rate of 1024 Hz and fetal R-waves were extracted using adaptive signal processing. Fetal behavioral states were assigned based on HR pattern and the presence or absence of eye and general body movements. We found that a significant HR deceleration occurred, in both QS and AS, following stimulus onset. However, HR decelerations occurred more often in QS than AS; and for fetuses exhibiting a HR deceleration, the magnitude of the deceleration was greater in AS compared to QS. In addition, in AS female fetuses exhibited a larger, more sustained HR deceleratory response than male fetuses, but the seconds x gender interaction in QS was not significant. Based on these results, we concluded that behavioral state is an important determinant of the HR deceleratory response in human fetuses.