Novel deletion of exon 3 in TYR gene causing Oculocutaneous albinism 1B in an Indian family along with intellectual disability associated with chromosomal copy number variations

Background Oculocutaneous albinism (OCA) is an autosomal recessive disorder characterized by hypo-pigmentation of skin, hair, and eyes. The OCA clinical presentation is due to a deficiency of melanin biosynthesis. Intellectual disability (ID) in OCA cases is a rare clinical presentation and appropriate diagnosis of ID is challenging through clinical examination. We report an Indian family with a rare co-inheritance of OCA1B and ID due to a novel TYR gene variant and chromosomal copy number variations. Methods We have done a study on three siblings (2 males and 1 female) of a family where all of them presented with hypopigmented skin, hair and eyes. The male children and their father was affected with ID. Targeted exome sequencing and multiplex ligation-dependent probe amplification analysis were carried out to identify the OCA1B and ID associated genomic changes. Further Array-CGH was performed using SurePrint G3 Human CGH + SNP, 8*60 K array. Results A rare homozygous deletion of exon 3 in TYR gene causing OCA1B was identified in all three children. The parents were found to be heterozygous carriers. The Array-CGH analysis revealed paternally inherited heterozygous deletion(1.9 MB) of 15q11.1-> 15q11.2 region in all three children. Additionally, paternally inherited heterozygous deletion(2.6 MB)of 10q23.2-> 10q23.31 region was identified in the first male child; this may be associated with ID as the father and the child both presented with ID. While the 2nd male child had a denovo duplication of 13q31.1-> 13q31.3 chromosomal region. Conclusion A rare homozygous TYR gene exon 3 deletion in the present study is the cause of OCA1B in all three children, and the additional copy number variations are associated with the ID. The study highlights the importance of combinational genetic approaches for diagnosing two different co-inherited disorders (OCA and ID). Hence, OCA cases with additional clinical presentation need to be studied in-depth forthe appropriate management of the disease.

Salmonella typhimurium meningitis in an exclusively breast fed infant: A case report

Salmonella-related meningitis brings greater morbidity and mortality than that caused by other bacteria. We report a case of Salmonella typhimurium meningitis in a male child aged 5½ months who presented with fever, poor feeding, and irritability. Anterior fontanelle was bulged. S. typhimurium was isolated from cerebrospinal fluid. Child was treated with intravenous antibiotics for 4 weeks and he recovered completely.

Devastating Salt-wasting Crisis in a Four-month-old Male Child with Congenital Adrenal Hyperplasia, Highlighting the Essence of Neonatal Screening

Classic Congenital Adrenal Hyperplasia in males usually presents late until before puberty, but rarely at birth. In cases of undiagnosed CAH, severe deficiency of cortisol may lead to life threatening situation in an infant with acute salt losing crisis. Screening for CAH at birth can lead to better outcomes.

A Comparative Study on Child Abuse and the Absence of Legal Protections for Male Child Sex Abuse Victims in Major South East Asian countries

The focal point of this paper is in highlighting the grim picture in dominant Asian countries China, India, and Pakistan where no practical application of the law is found to protect against the sexual abuse of children, particularly underage boys. An analysis regarding the conditions of sexual abuse in the aforementioned countries is carried out using the scarce reports issued by national governments, which will be supplemented with information from prominent NGOs and media reports. Thereafter, certain gaps in the justice system and law enforcement are identified. Simultaneously, the Western perspective is studied to ascertain how this issue is being addressed in Western societies and to what extent this heinous crime has impacted the lives of individuals. Finally, there is deliberation as to what the East could learn from Western practices for curbing the often-hidden menace of male child sex abuse. Keywords: Child abuse, Child sex abuse, Comparative study, Eastern practice, Gaps in justice system, Law enforcement, Male child abuse, Media reports

P081 Unravelling SLE in a young male child

Background Juvenile-onset systemic lupus erythematosus (jSLE)) is a rare but severe multisystem autoimmune, inflammatory disease that can affect any organ system and cause significant morbidity and mortality. The disease onset occurs before the age of 18, however the peak age of onset is between 12 and 14 years and it affects ∼15–20% of all SLE patients. Patients with disease onset before 5 years of age are very uncommon and may be referred to as early-onset SLE. They commonly present with fever and general malaise, rash and arthritis. In addition, cases of jSLE, tend to have more severe organ manifestations and greater damage at the time of diagnosis as well as a higher incidence of renal, cardiovascular and neuropsychiatric involvement. Compared with adult-onset SLE, it is more aggressive, with higher medication burden including corticosteroids and other immunosuppressive drugs. Method and results This case report reviews the journey of a 5-year-old boy, who developed recurrent skin rashes, fever and generalised lymphadenopathy in his second year of life. After multiple hospital admissions and various investigations at different facilities spanning a year, he was admitted to the paediatric emergency unit at a tertiary hospital on account of an acute infection. On presentation, he was pyrexial. There were hypo- and hyperpigmented lesions extending over his scalp, face and upper arms as well as vasculitic lesions in his palms and soles; lip ulcers, sparse brown hair and multiple, non-tender lymph nodes in the cervical, supraclavicular and axillary regions. Respiratory examination revealed a right lobar pneumonia. Heart rate was 112 bpm and heart sounds were normal, however an echocardiogram showed a moderate pericardial effusion with no signs of tamponade. His abdomen was distended with a non-tender hepatomegaly. There was no synovitis. He was lethargic, but had no focal neurological signs. Laboratory results were as follows: normocytic anaemia (8.5 g/dl); ESR (120 mm/h); deranged transaminases; albumin (32 g/dl); Creatinine (12umol/l); urinalysis was normal, positive antinuclear antibody (1:320); positive double-stranded DNA (1:40); positive anti-smith, anti-Ro and anti-RNP antibodies; low C3, C4. A lymph node biopsy showed reactive changes only, with no evidence of haematological malignancy. The diagnosis of jSLE was confirmed at age 3yrs. The acute illness due to pneumonia was treated with antibiotics. Prednisolone 10 mg, Hydroxychloroquine (HCQ) 80 mg daily, Azathioprine 25 mg daily, calcium supplementation and gastric protection were added to manage the jSLE. He made an initial recovery and was managed in the outpatient clinic for months. However, his illness flared up again around age 4 years when he developed generalized seizures, facial and pedal oedema, low urine output, proteinuria 3+, low albumin (25 g/dl), creatinine (252umol/l) and high urine albumin-creatinine ratio (278.62 mg/mmol) reflecting new renal and CNS involvement. A renal biopsy was not available. He received pulse iv methylprednisolone 250 mg daily for 3 days followed by monthly iv cyclophosphamide therapy 500 mg (NIH Regime) which was discontinued after the 5th cycle due to haemorrhagic cystitis. He eventually continued treatment with mycophenolate mofetil 125 mg daily, HCQ 80 mg daily, Prednisolone 10 mg daily, Nifedipine and Enalapril and a year later, has low activity from the cutaneous, renal and CNS manifestations. There is renal damage (creatinine 180 μmol/l) and hypertension, as well as treatment complications from prednisolone causing bilateral cataracts. Conclusion Early diagnosis of jSLE is still a challenge and a high index of suspicion is required especially in the very young. Severe presentation and aggressive clinical course is associated with tissue damage, as in the case presented. Management is complex and we were challenged by the choice and availability of treatment suitable for the severity of his disease, bearing in mind that damage can occur early especially in a male child. In addition, it is important to consider his young age and long-term exposure to drug toxicity and complications.

A CASE REPORT VITELLO-INTESTINAL DUCT FISTULA – A RARE PRESENTATION OF A PATENT VITELLO-INTESTINAL DUCT.

Patent Vitello-Intestinal Duct (VID) results as of failed obliteration of the fetal omphalocele coelom (herniated loops of intestine in the umbilical cord) during the development of the midgut. Herein, we report a case of a male child who presented at 5 year of age with history of persistent fecal discharge from umbilicus since birth.The VID stula was conrmed with a ultrasound and a wedge resection with primary anastomosis was done for it. The child was discharged 5 days postop without any complications. This case report highlight a rare cause of umbilical discharge for which surgical intervention was required.

Spontaneous gastric perforation in a 3 year old male child – A case report

spontaneous gastric perforation in paediatric patients beyond the neonatal age is seldom to seen by paediatric surgeon. Therefore we are sharing this case with enlisting the previously reported similar cases in English literature. a three year old male child presented with abdominal distension and hypovolemic shock. Free gas under diaphragm was explained the perforation and exploration confirm the gastric perforation. spontaneous gastric perforation is extremely rare in paediatric age group beyond the neonatal age group, but incidence probability is always there. So, each laparotomy needed exploration of stomach also.