M. Rohatgi

The optic nerve in children with craniosynostosis. A pre and post surgical evaluation.

Optic nerve (ON) damage especially from papilloedema can be prevented with timely detection. The detailed ocular and radiographic status of 33 unoperated craniosynostosis (CS) was documented prospectively; the ON was also assessed by flash VER and A-scan echography for ON thickness. Fluorescein angiography (FA) was done for all suspected and early papilloedemas. ON involvement diagnosed in 10/33 showed highly significant correlations with multiple suture synostoses (p = 0.004) and exorbitism (p < 0.001). VER latency was increased in all 5 ON atrophies; and also in 1/5 papilloedemas without atrophic changes, urgent surgery in which reversed VER changes, and vision later improved from 6/60 to 6/9. FA was valuable for confirming the clinical diagnosis of the earliest papilloedemas; the FA also returned to normal with immediate therapy along with reversal of the clinical picture. ON echography especially helped in monitoring regression of disc oedema. Ours seems the first report especially in CS where a critical follow-up of all above parameters in 21 operated / 33 could objectively establish the role of each investigation in conjunction with careful clinical monitoring especially of the ON head. Such comprehensive evaluation should help reduce the blindness often seen in such children.

Inguinal hernia in children: and Indian experience

In India, due to the limited pediatric surgical services available, the majority of the patients with indirect inguinal hernia (IIH) are managed by general surgeons. Between January 1986 and June 1992, at a tertiary care level center, 392 children with inguinal hernia were seen from 0–12 years of age (4.5% of all pediatric surgical procedures). Sixty-five percent of these presented when below 5 years of age. The majority of these (376, 96%) were boys. There were 212 (54%) right sided, 150 (38.3%) left sided and 30 (7.7%) bilateral hernias. Eighteen children (4.6%) presented with incarceration, and 6 of these required intestinal resections. The results following surgical repair were excellent. Contralateral exploration was reserved for babies under 6 months of age and girls (intersex disorders excluded). In a non-teaching hospital in Delhi inguinal hernias constituted 12.5% of all surgical procedures. Most of the children were over 1 year of age and only the symptomatic inguinal hernias were operated upon, without a policy for contralateral exploration. Due to the high risk of incarceration in premature babies, a careful search for the presence of inguinal hernia is recommended.

Mixed gonadal dysgenesis and dysgenetic male pseudohermaphroditism—A critical analysis

A 10 year prospective study of 14 patients with mixed gonadal dysgenesis (MGD) and six patients with dysgenetic male pseudohermaphroditism (DMP) is reported. All of them had internal mullerian structures, along with unilateral or bilateral dysgenetic testes, ambiguous external genitalia. Twelve had been brought up as male, nine of whom had a unilateral descended testis. Eight had been reared as females, as they had bilaterally undescended gonads, and ambiguous genitalia. Clinical examination, retrograde genito-urethrography and cytogenetic studies suggested the diganosis in 16 patients, while four were diagnosed on inguino-abdominal exploration for undescended testis. This report delineates more clearly the clinical profile of these orders.All the patients reared as male were assigned the male gender following abdominal gonadectomy, retention of scrotal testis and male genitoplasty. The eight patients who were reared as females underwent bilateral salpingo-gonadectomy and female genitoplasty. This management differs from the usual recommendation that all such children should be reared as females.Ten patients (50%) had maternal history of previous abortion/stillbirth, or drug intake in the first trimester of pregnancy suggesting a role of these factors in the etiology. All cases of DMP had a 46, XY karyotype, while eight of 14 cases of MGD had mosaicism with 45X/46,XY cell lines in blood or gonadal cultures. The clinicopathological features of patients of MGD and DMP were similar. It is suggested that these two disorders represent different spectra of the same disorder. A unifying concept of etiopathogenesis is proposed.

Congenital adrenal hyperplasia: Experience at intersex clinic, AIIMS

During 1981–88, 63 cases of female pseudohermaphroditism (FPH) were seen at the Intersex clinic at AIIMS, of whom 34 (54%) were diagnosed as due to congenital adrenal hyperplasia (CAH). Though ambiguity was present at birth in most cases, only one child was brought immediately after birth, while 14 presented after one year. Family history of affected siblings and fetal wast-age was present in 10. Salt wasting symptoms were present in 13 (38.2%), evidence of early virilization in 10 (29.4%) and generalised hyperpigmentation in 7 (20.6%). Clitoromegaly was present in 30 children with labial fusion in 10 and scrotalisation of labia in 6. The urogenital opening was single in 25 (73.5%). Buccal smear was positive for sex chromatin in 19. Chromosomal pattern showed 46 XX in 33. Dyselectrolytemia was present in 16 children. Bone age was advanced in all. Adrenal hyperplasia could be documented in 3 on CT scan. All the girls were put on hydrocortisone or prednisolone, and fluodrocortisone was given only to children with salt wasting CAH. Children with CAH are being broght to medical attention much too late and investigative and therapeutic facilities are grossly inadequate. There is a need to educate primary care physicians for early case detection and provide minimum diagnostic and therapeutic facilities in regional centres.

Multicystic kidney in association with hepatoblastoma —A case report—

In the absence of functional renal tissue on the right side, differentiating between a liver tumor and a renal tumor, both clinically and on routine imaging, is difficult. This clinical dilemma is highlighted here in a case report of a 2 year old girl with hepatoblastoma occurring in association with multicystic kidney. To our knowledge no other such case has been reported so far.

Use of appendix in biliary atresia

Antiperistaltic appendiceal conduit based on its vascular pedicle was used as hepaticoporto-appendico-jejunostomy (HAJ) in 9 infants with advanced stage of biliary atresia. Operative procedure was simple and less time consuming. The postoperative cholangitis was conspicuously absent, possibly due to the role played by the presence of lymphoid follicles in the wall of the appendix. Our early experience with this technique shows that antiperistaltic appendiceal conduit works quite satisfactorily. The procedure has been successfully utilised to reduce the problems contributing post-operative morbidity and mortality in cases with the advanced disease. The HAJ procedure provides a conduit for bilioenteric drainage, that closely resembles to normal anatomy.

Presence of embryotoxic factor in the sera of neonates affected by myelomeningocele: A study on chick embryo

An experimental study on chick embryos was conducted where 0.02 mL of serum, taken from five neonates (1 to 7 days of age) with myelomeningocele was injected separately into the fertile white leghorn eggs, at zero hour of incubation. A total of 150 experimental and 135 control eggs were injected. It was observed that the embryos of chick exposed to experimental serum had an increased frequency of embryonic death and/or gross abnormalities as compared with the control group (chi 2 = 32.07; P less than .001). The anomalies observed were those of neural tube, gastrointestinal system, and musculoskeletal system. In addition, there was a generalized growth retardation among experimental embryos. These malformations are probably due to an embryotoxic factor, which is present in the serum of the baby with myelomeningocele and has been transmitted transplacentally.

An unusual presentation of neonatal hydrometrocolpos with review of pathogenesis and management

An unusual case of neonatal hydrometrocolpos is reported where uterovaginal distension with fluid had produced not only a midline abdominal mass, but also bilateral cystic gluteal swelling. Perineal extension of a hydrometrocolpos causing bilateral gluteal swelling has not been reported previously in the literature. Our patient also had multiple associated anomalies suggestive of a defect in mesodermal embryogenesis similar to that in the müllerian dysgenesis syndrome.

Echo-Doppler assessment of cardiac status in conjoined (thoraco-omphalopagus) twins

SummaryCardiac status was assessed noninvasively in a case of thoraco-omphalopagus conjoined twins by two-dimensional and Doppler echocardiography which showed completely separate hearts and major arteries and veins. The twins were successfully separated surgically, without preoperative invasive cardiac investigation. Echocardiography can provide an accurate assessment of cardiac status in conjoined twins and may obviate the need for cardiac catheterization.

Single-system cecoureterocele

A rare case of single system cecoureterocele associated with ipsilateral dysplastic kidney in a 4-year-old girl is reported. The preoperative radiological and endoscopic investigations identified ureterocele but not its cecal extension. The latter was diagnosed only during the transvesical surgery. Complete cure of her symptoms was achieved following staged procedures comprising of right ipsilateral nephroureterectomy followed by combined transvesical and transurethral deroofing of the cecoureterocele, excision of ureteric stump and its extension in the bladder and repair of the detrusor. This is the second case report in English language literature of single-system cecoureterocele.