Congenital central hypoventilation syndrome with Hirschsprung's disease, also known as Haddad syndrome, is an extremely rare disorder with variable symptoms. Recent studies described that congenital central hypoventilation syndrome had deep relation to the mutation of the PHOX2B gene in its diagnosis and phenotype. We report a newborn male infant with clinical manifestations of recurrent hypove...

Purpose: Synkinesis results from nerve miswirings and causes aberrant movements of the affected muscles. We present a series cases rare congenital ocular synkinesis involving extraocular muscles levator palpebrae superioris speculate possibility classifying these entities in spectrum cranial dysinnervation disorder. Methods: Records patients with diagnosis were analyzed retrospectively. sex, la...

Double-chambered right ventricle (DCRV) is a rare congenital heart disorder involving 2 different right ventricle (RV) pressure compartments that is often associated with ventricular septal defect (VSD). Usually, the obstruction is caused by an anomalous muscle bundle crossing the RV from the interventricular septum to the RV free wall. We are reporting a case of double-chambered right ventricl...

Malignant hyperthermia (MH) a rare genetic disorder is often associated with congenital disorders which are not diagnosed preoperatively. The incidence of MH being very low is still potentially a fatal disorder in anesthesia practice. Mortality still remains high despite its complex and demanding management. Reporting of MH and MH-like syndrome when treated timely with Dantrolene Sodium drastic...

Background Patent ductus arteriosus is a common congenital disorder (10% of congenital disorders). Ductus Botalli closure is the realm of invasive cardiology. Inability to perform ductus Botalli closure with percutaneous methods causes, that administration of indomethacin or surgery are nowadays treatment of choice. The aim is to present an alternative in treatment with minimally invasive surge...

Lymphangioma circumscriptum is a rare disorder of lymphatic channels characterised by multiple grouped thin translucent vesicles. The lesions are often seen around the neck, upper trunk, proximal extremities and tongue. Genital involvement in females has been reported but penis is a rare site. On the other side congenital variety is extremely rare. Here we are presenting a rare case of congenit...

X-linked congenital nystagmus is a rare disorder in which affected males manifest binocular uniplanar nystagmus with associated head oscillation. In the families previously reported, affected females have been described. We report on a multigeneration family with X-linked congenital nystagmus with an affected woman. She was a (46,XX/45,X) mosaic. Magnetic resonance images of the brain of affect...

2–4. Pathology of the urinary system KH Consequences of renal failure. Basic mechanisms of renal failure (prerenal, intrinsic and post-renal), fundamental differences between acute and chronic renal failure. Various categories of renal disease e.g. congenital/inherited, circulatory, toxic, glomerular disease, tubulointerstitial disease, parasitic disease and neoplasia. Lower urinary tract (e.g....

INTRODUCTION Placental sulphatase deficiency/congenital ichthyosis is an X-linked inborn error of metabolism which was first described in 1969 by France and Liggins.1 It is an enzymatic defect affecting steroid metabolism, clinically manifested by diminished oestrogen production during fetal life and by congenital ichthyosis post-natally. This disorder has a reported incidence of between 1: 6,0...

Congenital Insensitivity to Pain belongs to the family of Hereditary Sensory and Autonomic Neuropathies (HSAN). It is a rare disorder of unknown etiology associated with loss of pain sensation. Cognition and sensation is otherwise normal and there is no detectable physical abnormality. We report a case of Congenital Insensitivity to Pain in a 3 year old female child.