Dissociative disorder in Mayer Rokitansky Küster Hauser syndrome with pulmonary agenesis: a case report

Background The Mayer Rokitansky Küster Hauser (MRKH) syndrome is a rare congenital disorder characterized by the absence of uterus and vagina in a patient who is phenotypically a female, with 46 XX karyotypes. It affects 1 in 4000 to 5000 female new-borns. Pulmonary agenesis is a rare association in this MRKH syndrome. Females with MRKH face various mental health issues and psychological disturbances, including dissociative disorder which is a stress-related psychiatric disorder. Dissociative disorder in MRKH syndrome is under-recognized and under-treated. Case presentation A 23-year-old unmarried woman presented to the emergency forabnormal behaviour attack. Recurrent episodes of dissociative convulsions were present most of the time with MRKH syndrome as the pertinent stressor. Both antidepressants and psychotherapy helped to decrease the frequency of dissociative convulsions and come interms with the syndrome. Conclusion This case describes dissociative disorder as the presentation and comorbid condition of MRKH syndrome and the impact of MRKH syndrome on the patient. We attempt to explain the occurrence of dissociative disorder in MRKH syndrome and the results of under-recognition and under-treatment of the same. We aim to highlight the presence of commonly treatable conditions associated with a rare syndrome and its effect when untreated and unrecognized.

Urachal cyst revealed by pyogenic granuloma in an adult patient

Urachal cyst is a rare congenital disorder due to a defect in the obliteration of the urachal duct, usually diagnosed in the first months of life. We report a case of urachal cyst revealed by a Pyogenic granuloma in an adult patient.

Blue rubber bleb nevus syndrome: A rare cause of chronic gastro intestinal bleed in children

Blue rubber bleb nevus syndrome (BRBNS) is a rare congenital disorder presenting with multifocal venous malformations of the skin, soft tissues, and gastrointestinal (GI) tract. Here, we report a case of a 10-year-old girl who presented with recurrent lower GI bleeding and abdominal pain requiring repeated blood transfusion for 2 years. A contrast computed tomography showed multiple cavernous haemangiomas in the liver, oesophagogastroduodenoscopy and colonoscopy showed multiple hemangiomas from esophagus to large bowel. Her molecular pathology confirmed BRBNS. She underwent endoscopic argon plasma coagulation with uneventful recovery. In spite of a wide range of therapeutic options for the management of BRBNS described in the literature, the efficacy of those available therapies, including surgical excision, is not well established.

Laparoscopic repair of retro-caval ureter: report of two cases

Retrocaval ureter is a rare congenital disorder and surgery is necessary when the patient is symptomatic or having significant functional obstructions. The two cases referred to our center with severe hydronephrosis on their right sides. In both cases further evaluation with CT scan showed the diagnosis of retrocaval ureter. The retrocaval segment of the both ureters were isolated and after the excision of the narrow segments, end to end anastomosis have been done with transperitoneal laparoscopic technique. The laparoscopic ureteroureterostomy is a safe, effective and minimally invasive procedure and should be considered as a standard treatment for retrocaval ureter.

Renal abnormalities associated with Mayer-Rokitansky-Küster-Hauser syndrome

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital disorder affecting female reproductive system (agenesis of uterus and upper part of vagina) alone (type 1), or associated with abnormalities of other organs and systems (type 2). We report a case of a 21-year-old woman diagnosed with MRKH due to primary amenorrhea during puberty and operated for formation of neovagina. She was admitted to the Department of Urology with abdominal pain and oligoanuria, where the physical examination and imaging studies revealed a malformation of the upper urinary tract: a solitary dystopia of kidney in the pelvis with stenosis of ureteropelvic junction and hydronephrosis. After initial desobstruction with a DJ stent, a pyeloplasty was performed. Females with primary amenorrhea are often delayed with the diagnosis of potential MRKH syndrome, and those diagnosed with the syndrome should undergo detailed examination to exclude concomitant urinary abnormalities.

Case Report: Life-Threatening Post-operative Hemorrhage in Klippel–Trenaunay Syndrome Associated With Hypofibrinogenemia

Klippel–Trenaunay Syndrome (KTS) is a rare congenital disorder, characterized by venous and lymphatic malformations of the skin, soft tissue, and bone, causing limb hypertrophy. Although, a ruptured hemorrhagic corpus luteum is a rare condition in women of reproductive age, it can result in lethal outcomes. Here, we have described a patient with KTS and hypofibrinogenemia who went through recurrent lethal postoperative bleeding due to a ruptured hemorrhagic corpus luteum. This case suggested that conservative therapy might be the first choice and effective therapy for the patients with KTS, who suffered from bleeding complications of surgical therapy.

Preventive use of nitisinone in alkaptonuria

Alkaptonuria (AKU, OMIM 203500) is a rare congenital disorder caused by a deficiency of the enzyme homogentisate-1,2,-dioxygenase. The long-term consequences of AKU are joint problems, cardiac valve abnormalities and renal problems. Landmark intervention studies with nitisinone 10 mg daily, suppressing an upstream enzyme activity, demonstrated its beneficial effects in AKU patients with established complications, which usually start to develop in the fourth decade. Lower dose of nitisinone in the range of 0.2–2 mg daily will already reduce urinary homogentisic acid (uHGA) excretion by > 90%, which may prevent AKU-related complications earlier in the course of the disease while limiting the possibility of side-effects related to the increase of plasma tyrosine levels caused by nitisinone. Future preventive studies should establish the lowest possible dose for an individual patient, the best age to start treatment and also collect evidence to which level uHGA excretion should be reduced to prevent complications.

ASYMMETRIC CRYING FACIES: A CLINICAL ODDITY

Background – Congenital hypoplasia of depressor angularis oris muscle (CHDAOM), which is often confused with unilateral facial nerve palsy, is a rare congenital disorder presenting with asymmetric crying facies in a newborn. Accurate diagnosis of this condition is imperative in order to ensure further screening to rule out associated anomalies and appropriate management. We report a late preterm male Clinical description – neonate who was noticed to have facial asymmetry selectively during episodes of crying. During quiet or sleeping state, the face was symmetrical. Clinical examination did not reveal any other facial abnormality or any evidence of facial nerve palsy. Associated anomalies were Management – ruled out by thorough evaluation. In view of isolated CHDAOM, parents were explained regarding benign course of the condition. The neonate was discharged after an uneventful hospital stay. This case report emphasizes the importance of a Conclusion – detailed clinical examination in the diagnosis of CHDOAM. CHDOAM, if occurring in isolation, is a benign condition and does not require any intervention. Parental counselling is the cornerstone of management. However, the diagnosis of CHDAOM should raise suspicion for other associated congenital anomalies and warrants a thorough evaluation.

NEONATAL APLASIA CUTIS CONGENITA WITH PYOMENINGITIS – A RARE PRESENTATION

Background - Aplasia cutis congenita is a congenital absence of skin in new born. It can be anywhere over body. Aplasia cutis congenita is a rare congenital disorder of skin. We are presenting a case of aplasia cutis congeni Case report – ta in female child associated with pyomeningitis. Conclusion - Aplasia cutis congenita, its rarity and unknown etiology is the reason of reporting. It is rarely reported a case of Aplasia cutis congenita with association of pyomeningitis.