Neonatal severe hyperparathyroidism: A case report.

Neonatal severe hyperparathyroidism (NSHPT) is a rare genetic disorder that presents within the first six months of life. We present the case report of a male child who presented to us in the first month of his life with symptoms of lethargy, constipation, and reluctance to feed. One sibling of the child had died earlier with similar symptoms in the first six months of life. Upon physical examination, the child was lethargic, dehydrated, had bradycardia with hyperreflexia. Serum electrolyte analysis showed hypercalcaemia and hypophosphataemia. Further workup revealed elevated serum parathyroid hormone levels and Calcium sensing receptor (CaSR) gene mutation in autosomal recessive patterns. The father was discovered to be heterozygous for the same mutation but is asymptomatic. Diagnosis of neonatal severe hyperparathyroidism was made and the child was managed medically with intravenous fluids, Furosemide, Pamidronate, and Cinacalcet. On inconsistent response to medical therapy, he underwent total parathyroidectomy with auto transplantation of half of the left lower parathyroid gland. Postoperatively, the child is being managed on oral calcium and Alpha Calcidiol supplementation and is doing well.

Surgical treatment for intractable pruritus in progressive familial intrahepatic cholestasis.

Progressive familial intrahepatic cholestasis (PFIC) is one of the causes of childhood end stage liver disease. It is an autosomal recessive disorder, characterized by pruritus, coagulopathy, growth retardation, jaundice, and subsequently cirrhosis and hepatic failure due to impaired bile acid transport and metabolism. Diversion of bile, internally or externally, from the terminal ileum, to decrease re-uptake, is a viable option for relieving pruritus. Four children with PFIC type1 were treated with partial internal biliary diversion (PIBD) from June 2014 To March 2017 in the Unit of Paediatric surgery, Jinnah Hospital Lahore. The ages of patients were from four months to five years. Three were girls and one was a boy. The main symptom common to all was intractable pruritus. There was relief in pruritus, observed within first week postoperatively. They had been able to sleep without pruritis associated awakening episodes. PIBD is an effective technique for relieving the most devastating symptom of pruritus in PFIC.

Management of Post-traumatic and Iatrogenic urethrocutaneous fistula in children (a case series of seven patients).

This is a retrospective study of seven patients with post-traumatic and iatrogenic urethrocutaneous fistula of penile urethra, excluding complication of hypospadias surgery. It was conducted in the Paediatric Surgery Department, Jinnah Hospital Lahore from June 2014 to January 2017. The patients ages ranged from three to twelve years. All the patients were managed by repairing the fistula in three layers electively at 3 months from the date of initial presentation. They remain well with no complaints except one with a recurrence. The complications of circumcision can be avoided by preventing circumcision by non-doctors and quacks.

Morphological patterns in children with ganglion related enteric neuronal abnormalities.

BACKGROUND: Hirschsprung's Disease (HD) is a developmental disorder of enteric nervous system characterised by the absence of ganglion cells in submucosal (Meissner's) and myenteric (Aurbach's) plexuses of distal bowel. The purpose of the present study was to observe and report the morphological patterns of ganglion related enteric neuronal abnormalities in children presented with clinical features of (HD) in a Pakistani population. METHODS: A total of 92 patients with clinical presentation of HD were enrolled between March 2009 and October 2009. Among them, 8 were excluded according to the exclusion criteria. After detailed history and physical examination, paraffin embedded H and E stained sections were prepared from the serial open biopsies from colorectum. The data was analysed using SPSS-17. Frequencies and percentages are given for qualitative variables. Non-parametric Binomial Chi-Square test was applied to observe within group associations and p<0.05 was considered statistically significant. RESULTS: Among 84 patients, 13 (15.5%) proved to be normally ganglionic whereas 71 (84.5%) showed ganglion related enteric neuronal abnormalities namely isolated hypoganglionosis 9 (12.7%), immaturity of ganglion cells 9 (12.7%), isolated hyperganglionosis (IND Type B) 2 (2.8%) and Hirschsprung's disease 51 (71.8%). Among HD group, 34 (66.7%) belonged to isolated form and 17 (33.3%) showed combined ganglion related abnormalities. CONCLUSIONS: Hirschsprung's disease is common in Pakistani population, followed by hypoganglionosis, immaturity of ganglion cells and IND type B. The presence of hypertrophic nerve fibres was significant in HD, hyperganglionosis and hypoganglionosis, whereas, no hypertrophic nerve fibres were appreciated in immaturity of ganglion cell group.

Comparative study of efficacy, tolerability and compliance of oral iron preparations (iron edetae, iron polymatose complex) and intramuscular iron sorbitol in iron deficiency anaemia in children.

OBJECTIVE: To compare the efficacy, tolerability and compliance of oral iron preparations (iron edetate and iron polymaltose complex) with each other and with intramuscular iron sorbitol in iron deficiency anaemia in children. METHODS: A Randomized Controlled Trial (RCT) was carried out at the Paediatric Department of Combined Military Hospital (CMH) from January 2006 to December 2007. In total 146 children, up to 12 years age having haemoglobin (Hb%) less than 8 gm% were included. They were randomly distributed into three groups. Group A (64 cases) received oral sodium iron edetate (SIE), Group B (40 cases) received oral iron polymaltose complex (IPC) and group C (42cases) received intramuscular iron sorbitol (IS) in recommended dosages. Rise in Hb% > 10gm% was kept as desired target. Maximum duration of treatment planned was 2 weeks for parenteral iron (group C) and 12 weeks for oral iron (groups A and B). Haematological parameters- Hb%, mean corpuscular volum (MCV), mean corpuscuar haemoglobin (MCH), mean corpuscular haemoglobin concentration (MCHC) were measured at induction followed at 2 weeks, 4 weeks, 8 weeks and 12 weeks after start of treatment. Compliance and drop out rates were determined on each visit. Data was analyzed using SPSS version10.ANOVA was used to analyze difference in rise in Hb% at various intervals. RESULTS: Statistically significant increase in mean Hb%, MCV, MCHC after 02 weeks was observed in group C (IS). Rise in these parametes became significant in group A (SIE) and B (IPC) after 04 weeks. Peristent rise was observed in oral groups at 08 and 12 weeks. Rise in Hb% was much faster in group C (IS). It took 2 weeks to achieve mean Hb% > 10gm% and compliance rate was 40.5%, while to achieve same target, duration required was 8 weeks in group A (SIE) and 12 weeks in group B (IPC) and compliance rate was 39% and 30% respectively. Adverse effects were much more common with group A (SIE) as compared to other two groups. CONCLUSION: Intramuscular iron sorbitol is a reliable and faster alternative modality for treatment of iron deficiency anaemia in children. Short duration of treatment, sure rise in Hb% and minimal adverse effects improve compliance as compared to oral preparations. Among oral preparations, rise in Hb% is more rapid with iron edetae. While IPC gives relatively slower rise in Hb% but side effects are much less as compared to SIE.

Etiology of short stature in children.

OBJECTIVE: To determine the causes of short stature in children with special emphasis on growth hormone deficiency. STUDY DESIGN: Case series. PLACE AND DURATION OF STUDY: Department of Paediatrics, Military Hospital, Rawalpindi and Combined Military Hospital, Multan from September 2004 to January 2007. METHODOLOGY: Two hundred and fourteen children (140 boys and 74 girls), ranging from 02 to 15 years presenting with short stature were studied. Height and weight were plotted on appropriate growth charts and centiles determined. Relevant hematological and biochemical investigations including thyroid profile were done. Bone age was determined in all cases. Growth hormone axis was investigated after excluding other causes. Karyotyping was done in selected cases. Data was analyzed by SPSS 10.0 by descriptive statistics. Mean values were compared using t-test. RESULTS: In this study, the five most common etiological factors in order of frequency were Constitutional Growth Delay (CGD), Familial Short Stature (FSS), malnutrition, coeliac disease and Growth Hormone Deficiency (GHD). In 37.4% of patients, the study revealed normal variants of growth - CGD, FSS or combination of both, 46.7% cases had nonendocrinological and 15.9% had endocrinological etiology. CGD (22.1%) in males and FSS (27%) in females were the most common etiology. GHD was found in 6.1% children and it comprised 38.2% of all endocrinological causes. Children with height falling below 0.4th centile were more likely to have a pathological short stature (79.2%) compared to 39.3% whose height was below 3rd centile but above 0.4th centile (p < 0.05). CONCLUSION: CGD and FSS are most common causes of short stature in boys and girls respectively, whereas, GHD is a relatively uncommon etiology.

Cerebellar tuberculoma mimicking posterior cranial fossa tumour.

A young girl presented with history of prolonged fever, vomiting and headache. CT scan of brain revealed a space occupying lesion in posterior cranial fossa with moderate hydrocephalus. Surgery was performed and histopathology report confirmed the lesion as tuberculous. Patient showed smooth postoperative recovery and complete remission of complaints on antituberculous treatment for one year and regular follow-up.

Excision with or without primary closure for pilonidal sinus disease.

OBJECTIVE: To evaluate the outcome of excision with or without primary closure in the management of chronic pilonidal sinus (PNS) disease. METHODS: Between July 2002 and November 2006, a randomized trial was conducted in the Department of General Surgery, Riyadh Medical Complex, Riyadh, Kingdom of Saudi Arabia. All the patients who presented with chronic natal cleft PNS disease were included in the study. They underwent either excision with midline closure (EMC group), or excision without closure (EWC group). Patients, who came with an acute pilonidal abscess (complicated) were excluded from the study. The principle outcome measures recorded were wound infection, healing time, time off work and the recurrence rate. RESULTS: A total of 380 patients of chronic PNS were divided into EMC group, (188 patients) and EWC group (192 patients). Majority of the patients were male in both the groups (93%). The hospital stay ranged from 2 to 5 days (mean = 3.6 +/- 1.4 days) for EMC group, while it was 3-5 days (mean = 4 +/- 1.1 days) for EWC group (p < 0.002). wound infection was 4.2% in EMC group, compared to 3.12% of EWC group (MS). The mean healing time and time off work in EMC group was significantly shorter than the patients in EWC group. Median follow up of EMC group was 36.3 months (range 10-52 months) while it was 35.2 months (range 13-51 months) for EWC group. Statistically there was no significant difference in the recurrence rate of both the groups (3.7% vs. 3%). CONCLUSIONS: Excision and primary closure is recommended, as a preferred procedure in the management of chronic PNS disease. It has the advantages of early wound healing, rapid return to work and comparable recurrence rate with excision and open wound.

Persistent mullerian duct syndrome: A 24-year experience.

BACKGROUND: Persistence of mullerian duct derivatives in otherwise normal male child is a very rare disorder. This may lead to diagnostic as well as management dilemma. MATERIALS AND METHODS: The medical record of 27 cases of persistent mullerian duct syndrome (PMDS) operated in three teaching hospitals more than a period of 24years is retrieved and analyzed for demography, clinical presentation, investigations, and treatment. RESULTS: There were a total of twenty seven male children with PMDS. The age was ranged between 3months and 19years. Ten patients presented with isolated bilateral UDT, six patients with bilateral UDT and unilateral inguinal hernia (4 left and 2 right sided inguinal hernia), and eight patients presented with right inguinal hernia and left sided UDT. Eight of 27 patients showed familial trends i.e. four pairs of brothers had PMDS in our series. In 21 patients, the diagnosis was made incidentally while operating for UDT and inguinal hernia. At operation 5 patients had female type of PMDS and 22 patients had male type PMDS. In 6 patients (male type), the PMDS was associated with transverse testicular ectopia. In 18 patients the initial operation was performed through inguinal incision with excision of mullerian remnants in the same settings in 12 patients. In 4 patients, straightforward laparotomy performed (familial cases) to excise mullerian remnants. In 5 patients, the PMDS was diagnosed on laparoscopy; initially biopsy of these remnants and gonads was done followed by excision of remnants by laparotomy approach. Biopsies taken from gonads in each patient revealed testicular tissue with variable degree of immaturity and dysplasia. The biopsy of mullerian remnants did not reveal any malignancy. All patients were genotypically male. CONCLUSION: Isolated undescended testes, left UDT and right inguinal hernia, bilateral UDT and unilateral inguinal hernia are the main presenting features of PMDS. About 30% of the patients showed familial tendency. Inguinal exploration for UDT or inguinal hernia, and laparoscopy for UDT reveal incidental findings of mullerian remnants. PMDS can be managed as single stage procedure however two stage procedure including gonadal biopsies in first stage followed by mullerian remnants excision and orchidopexy in the second stage can be opted if there is doubt about gonads and genotype.

Popliteal pterygium syndrome: a rare entity.

The popliteal pterygium syndrome is a congenital malformation that includes orofacial, musculoskeletal and genitourinary anomalies. It is a rare autosomal dominant disorder. We report one family with popliteal pterygium syndrome affecting father and his two daughters, who underwent surgical corrections for multiple congenital malformations.

Epigastric heteropagus twin.

Parasitic twining is a rare type of monozygotic monochorionic monoamniotic asymmetrical conjoined twin. We report a case of epigastric heteropagus twin. An ultrasound scan showed a defect of 1.5 cm in the epigastrium. CT showed soft tissue lobulated mass with fat and air components coming out of the epigastric defect. At operation rudimentary alimentary canal with no viscera, was found in the parasite. The parasite was easily separated from the host.

Atresia of the ascending colon: a rarity.

Atresia of the colon is among the rare types of all gastrointestinal atresias. Ascending colon is the rarest site of all the colonic atresias. The authors report a case of a 4-day-old male baby who presented with the features of distal intestinal obstruction. At laparotomy type I atresia of the ascending colon, just distal to cecum, was found. Primary ceco-colic anastomosis along with a covering ileostomy was performed. Ileostomy was reversed 3 weeks later.

Value of water-soluble contrast (meglumine amidotrizoate) in the diagnosis and management of small bowel obstruction.

INTRODUCTION: The object of the present study was to determine the effectiveness of a water-soluble contrast follow-through study for differentiating complete from incomplete small bowel obstruction (SBO) and for predicting the need for surgery. METHODS: This prospective study was conducted at Riyadh Medical Complex, Saudi Arabia and spanned 2 years. All adult patients admitted with SBO were included, except those with obstructed hernias, peritonitis, or postabdominal irradiation. The initial resuscitation meglumine amidotrizoate (Gastrografin) follow-though was performed and was considered positive for complete obstruction if the contrast failed to reach the colon as shown on the 24-hour film. Patients were operated on only if they developed signs of strangulation or failed to improve within 48 hours. RESULTS: Our study group consisted of 73 patients, 48 (65.7%) of whom were male. The mean age was 35.70+/-12.65 years. In 60 (82.2%) patients, contrast reached the ascending colon within 24 hours, giving a definitive diagnosis of incomplete obstruction; among these 60 cases, 49 (81.7%) resolved on conservative management. The other 13 (17.8%) patients were diagnosed as having a complete obstruction; 4 (30.8%) of them were treated conservatively, and 9 (69.2%) underwent surgery. Therefore the sensitivity, specificity, positive predictive value, and negative predictive value for meglumine amidotrizoate follow-through as an indicator for operative treatment of SBO were 45.0, 92.5, 81.7, and 69.2, respectively. The P value using Fisher's exact test was 0.0006. CONCLUSIONS: We can confidently diagnose complete and incomplete SBO and differentiate one from the other. This accurate diagnosis indicates a high chance of success with conservative management for incomplete obstruction but does not always correlate with the need for surgical intervention.

Wandering spleen.

Wandering spleen is a rare clinical entity, characterized by splenic hypermobility that results from elongation or maldevelopment of its suspensary ligaments. The wandering spleen is in constant danger of torsion and infarction. This condition poses a great diagnostic challenge due to lack of awareness and paucity of symptoms. Among adults, it usually occurs in females of childbearing age, the children below ten years of age are other sufferers. The clinical presentation may be acute or chronic; such as asymptomatic abdominal mass, an acute abdomen, or, most commonly, a mass associated with vague abdominal symptoms. Computed tomography and duplex ultrasonography are best diagnostic modalities. The traditional conservative approach carries high risk of infarction leading to splenectomy and postsplenectomy sepsis. Splenopexy is the treatment of choice for all noninfarcted wandering spleens. Splenectomy should only be performed when there is no evidence of splenic blood flow after detorsion of the spleen. The present study, reviews the presentation, course, diagnostic modalities and management options of wandering spleen.