ABSTRACT
Growth retardation, hypogonadismus, hepatosplenomegalia, zinc- and iron deficiency, geofagia, changes in small intestinal mucosa and some congenital abnormalities are characteristics of the Prassad syndrome, which is rarely seen. In this case report we present a patient of our clinic, in whom we diagnosed the Prassad syndrome.
Subject(s)
Abnormalities, Multiple/genetics , Anemia, Iron-Deficiency/genetics , Dwarfism/genetics , Hypogonadism/genetics , Zinc/deficiency , Abnormalities, Multiple/diagnosis , Adult , Anemia, Iron-Deficiency/diagnosis , Diagnosis, Differential , Dwarfism/diagnosis , Hepatomegaly/genetics , Humans , Hypogonadism/diagnosis , Intestinal Mucosa/pathology , Male , Splenomegaly/genetics , SyndromeABSTRACT
The DIDMOAD or so called Wolfram syndrome is a hereditary disease with autosomal-recessive transmission showing 4 main features: diabetes mellitus, diabetes insipidus, nervus opticus atrophia and deafness. Beside this it shows multiple organ involvement. Our 38-year old male patient, showing all above mentioned features except deafness had urinary tract involvement and neurological symptoms. EEG, cerebral MRI, tests with evoked potentials and HLA-typing were performed to discuss the aetiopathogenetic background in our patient. Almost all symptoms of the Wolfram syndrome can be mixed up with complications of diabetes mellitus, which is usually the first symptom of the Wolfram syndrome. Because of this, wrong diagnosis is not rare. Hence in differential diagnosis in any diabetes mellitus type I patient, the possibility of the Wolfram syndrome should be discussed.