ABSTRACT
Congenital Central Hypoventilation Syndrome is a rare disorder of autonomic dysfunction where the body "forgets to breathe". The primitive responses to hypoxia and hypercapnia are sluggish to absent. Since, it was first described in 1970, not much has been discovered about its etiology and pathophysiology except its relationship with PHOX2B gene mutations and associations with disorders of neural crest origin like Hirschprung's Disease. Here, we describe such a case where the diagnosis of anything other than CCHS seems unlikely.
Subject(s)
Autonomic Nervous System/physiopathology , Diagnosis, Differential , Diseases in Twins/congenital , Humans , Infant , Infant, Newborn , Infant, Premature, Diseases/diagnosis , Male , Positive-Pressure Respiration , Sleep Apnea, Central/congenital , TracheostomyABSTRACT
Superior Mesenteric Artery Syndrome is an atypical cause of high intestinal obstruction seen frequently in patients with rapid weight loss or immobilization in a body cast (\also called CAST Syndrome). The SMA impinges on the third part of the duodenum immediately after originating from the anterior aspect of aorta, making an abnormally narrow angle with the later. Intestinal obstruction results causing characteristic symptoms like postprandial epigastric pain, eructations, fullness and vomiting. Here we report such a case of SMA syndrome in a patient with history of rapid loss of weight.
Subject(s)
Child , Humans , Male , Superior Mesenteric Artery Syndrome/diagnosisABSTRACT
A six years old female had high-grade fever and two episodes of focal convulsions. Systemic examination was normal. Widal test was repeatedly positive. MRI-brain showed bilateral cerebritis. Blood antibody titers against brucella were positive. She responded to 6 months therapy with doxycycline, rifampicin and gentamicin replaced with streptomycin after 21 days.