Mosaic Variant of Turner Syndrome

Turner syndrome is the most common chromosomal abnormality leading to gonadal failure and primary amenorrhea. While half of the cases have monosomy of chromosome X, the remaining exhibit mosaicism resulting in wide variation of phenotypic characteristics and clinical manifestations. We present a case of a 24-year-old female with mosaic variant Turner syndrome. The diagnosis was confirmed by karyotype analysis and laparoscopy.

Do children with severe acute respiratory infection need cohorting & isolation before screening for COVID-19?

This retrospective analysis was done to ascertain the SARS-CoV-2-positivity rate in children (0-12 yr) with severe acute respiratory infection (SARI) and compare it to those without SARI to determine the need for running a dedicated SARI isolation facility for paediatric COVID-19 care. The case records of 8780 children (0-12 yr) admitted and/or tested for SARS-CoV-2 between June 2020 and May 2021 at a tertiary care centre in north India were analyzed. The overall SARS-CoV-2 reverse transcription (RT)-PCR positivity rate was 3.0 per cent (262/8780). There were 1155 (13.15%) children with SARI. Fifty of these 1155 (4.3%) children with SARI, as against 212 of the 7625 (2.8%) children without SARI, tested positive for COVID-19. The absolute difference in the positivity rate among SARI and non-SARI groups was only 1.54 per cent which translates to cohorting and isolating 65 children with SARI to pick up one extra SARS-CoV-2-positive child (compared to those without SARI). The positive predictive value of SARI as a screening test was 4.3 per cent. Our findings suggest that isolation of children with SARI as a transmission-prevention strategy for COVID-19 may not be required. This is particularly relevant in resource-limited settings.

Para vaginal dermoid cyst: a rare occurrence

Dermoid cyst (cystic teratoma) showing well differentiated derivatives of all three germs cell layers, is a benign germ cell tumour. Ovaries remain the commonest site. Paravaginal dermoid cyst is a rare occurrence. Pre-operative diagnosis is usually difficult in majority of cases. They constitute less than 4% of all extragonadal teratomas. A 28-year old, P2L2 female presented with paravaginal cyst, 10×10cms, non-tender, soft swelling, cystic in consistency occupying posterior and left part of rectovaginal septum. Trans vaginal excision of cyst under regional anaesthesia done. Cyst was ruptured while excision showing putty material with tuft of hairs. A retrospective diagnosis of mature teratoma/paravaginal dermoid cyst was made on histopathological examination. Paravaginal dermoid cyst, a benign cystic teratoma is a very rare occurrence. Transvaginal excision of dermoid cyst under anaesthesia remains treatment of choice. Retrospective diagnosis on histopathological examination remains confirmatory as it may be missed on sonography if teeth are not present in dermoid cyst.

Recurrent Ventricular Tachycardia and Peripheral Gangrene in a Young Child.

A 10-year-old girl presented with sudden onset recurrent ventricular tachycardia and symmetrical distal peripheral gangrene. She also had pulmonary thromboembolism and cerebral sinus venous thrombosis. Investigations revealed anemia, hemolysis, hypocomplementemia, and elevated IgM anti-beta2 glycoprotein antibody levels. Electrocardiogram and echocardiogram suggested features of a rare cardiac anomaly, which was confirmed at autopsy.

Hemophagocytic Lymphohistiocytosis in a Young Child.

Hemophagocytic lymphohistiocytosis (HLH) is a multisystem disorder mediated by cytokine storm and is characterized by fever, pancytopenia and organomegaly coupled with laboratory features like hyperferritinemia, hypertriglyceridemia, hypofibrinogenemia and transaminitis. Etiology can be genetic or acquired such as infections, malignancy and autoimmune disorders. Diagnosis, identification of underlying etiology and management of HLH remain tough clinical puzzles to sort out for the managing physician. We report a clinico-pathological conference of a three-year-old boy who had such a presentation and succumbed during the hospital stay.

50 years of Pediatric Immunology: Progress and Future - A Clinical Perspective.

Rapidly evolving advances in the field of immunology over the last few decades have impacted the practice of clinical medicine in many ways. In fact, understanding the immunological basis of disease has been pivotal in deciphering the pathogenesis of several disease processes, infective or otherwise. As of today, there is hardly any specialty of medicine which is not influenced by immunology. Pediatric rheumatological disorders, vasculitides, Human Immunodeficiency Virus (HIV) infection, Primary Immunodeficiency Diseases (PIDs) and autoimmune disorders fall under the domain of clinical immunology. This specialty is poised to emerge as a major clinical specialty in our country. The gulf between bench and bedside is narrowing down as our understanding of the complex immunological mechanisms gets better. However, a lot still needs to be done in this field as the morbidity and mortality of some of these conditions is unacceptably high in the Indian setup. A number of medical schools and institutes in the country now have the resources and the wherewithal to develop into specialized centres of clinical immunology. We need to concentrate on training more physicians and pediatricians in this field. The future is bright and the prospects exciting.

Brain Stimulation Techniques in Psychiatry.

Some chronic patients remain resistant in spite of using well-advanced pharmacological and non –pharmacological treatments. Some of the severe cases may benefit from treatment with neurosurgical interventions. Besides pharmacological, behavioral, and neurosurgical approaches, different brain stimulation methods-Tran cranial magnetic stimulation, deep brain stimulation, and electro convulsive therapy-have been investigated in treatment-resistant patients with Depression and OCD. The work done in these areas till now, is quite limited in terms of sample size and study design, given the difficulty in conducting standard blinded trials for these procedures. This article is written to know the efficacy and tolerability of these procedures.

Idiopathic spontaneous coronary artery dissection presenting as acute myocardial infarction in a young boy.

Spontaneous coronary artery dissection is a rare cause of acute myocardial infarction. It is more commonly seen in the younger age group particularly in women. We report a case of 14-year-old boy that presented with acute myocardial infarction (MI), with left ventricular (LV) dysfunction and was detected to have left main coronary artery dissection on coronary angiography. Myocardial perfusion imaging did not show any evidence of reversible ischemia. Patient was managed conservatively and was marginally improved. This case highlights one of the rare causes of myocardial infarction and the use of myocardial perfusion imaging in selecting treatment options for management of this rare entity.

Pathological Laughter and Crying.

Pathological laughing and crying (PLC) is a disorder of emotional expression, accompanying various neurological and neuropsychiatric conditions. It causes significant distress and impairment in social and occupational functioning. It remains largely unrecognized in clinical settings and requires differentiation from other affective disorders. Validated instruments are available to aid in improving recognition of this disorder. Its pathophysiology is poorly understood. Antidepressants, dopaminergic and other newer agents have been reported to show varying levels of treatment success. This review describes the clinical features. pathophysiology and various treatment approaches available for PLC.

Hepatitis-associated aplastic anemia: successful outcome following immunosuppressive therapy.

Hepatitis-associated aplastic anemia is an uncommon variant seen in young, previously healthy individuals. The pancytopenia follows hepatitis by a few weeks and is usually severe and prolonged. Bone marrow transplantation remains the cornerstone of therapy. However, immunosuppressive therapy has been found to be effective. We report an 8-year-old girl who had non-A, B, C and E hepatitis-associated severe aplastic anemia. She became transfusion-independent and had consistent, albeit incomplete recovery after immunosuppressive therapy with antithymocyte globulin and cyclosporine.

Transfusion associated graft versus host disease.

Transfusion-associated graft-versus-host disease (TA-GVHD) is a dreaded complication in immunocompromized hosts. The diagnosis is often delayed because of lack of awareness and the non-specific clinical features. More than 90% patients succumb to refractory infections. The only effective preventive measure is administration of irradiated blood products, which must be made available in centers managing immunocompromised patients. We report three cases and discuss pathophysiology and preventive strategies in this communication.

Study of serum lipids in leprosy.

Fifty fresh and untreated patients of leprosy constituted the study group. Fifty, age and sex matched healthy individuals formed the controls. Ridly and Jopling system of classification was used in the study. Majority i.e. 21 cases were of BT group, 12 of BB, 7 of BL, 9 of LL and one case was of TT leprosy. The serum triglyceride level was lower than normal in TT, showed no alteration in BT or BB and was insignificantly increased in bL and LL patients. The total cholesterol was lower than normal in TT, showed no alteration in BT or BB and was insignificantly increased in Bland LL patients. The total cholesterol was lower than normal in TT, whereas in BT, BB, BL and LL groups the levels were statistically decreased. The HDL cholesterol was within normal range in TT, significantly decreased in BT and LL patients, showed no significant alteration in BB and was insignificantly decreased in BL group. The LDL cholesterol in TT was low but was not so low statistically when compared with the controls, whereas in BT, BB, BL and LL groups the levels were statistically decreased. The VLDL cholesterol was within normal range in TT and BT, was raised insignificantly in 3 of 12 cases of BB, was within normal range in BL and in LL leprosy it was raised in one out of 9 cases. In the absence of any derangement of liver function tests, it can be concluded that leprosy per se leads to alterations in lipid metabolism. However, no correlation could be established between the group/type of leprosy, bacterial indices and levels of different lipid fractions in the present study.

Melanotic neuroectodermal tumour in an infant.

Most jaw swellings in infancy are benign odontogenic cysts or tumours. The encounter with an unusual melanotic neuroectodermal tumour of the jaw in a young infant is described in this report. There has been no recurrence, after complete surgical excision, in a follow-up period of six months.