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
Pheochromocytoma is a rare disorder. It usually presents typical hypertensive crises due to katecholamine secretion. Some rare cases of pheochromocytoma have been described to secrete mostly adrenalin and cause characteristical attacks of hypotension and tachycardia. The patient presented here is one of these rare cases. In patients with similar symptoms it is important to consider the possibility of an adrenalin-secreting pheochromocytoma when establishing a diagnosis.
Subject(s)
Adrenal Gland Neoplasms/complications , Hypotension/etiology , Pheochromocytoma/complications , Tachycardia/etiology , Adrenal Gland Neoplasms/diagnosis , Diagnosis, Differential , Diagnostic Imaging , Humans , Male , Middle Aged , Pheochromocytoma/diagnosisABSTRACT
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.
Subject(s)
Wolfram Syndrome/diagnosis , Adult , Atrophy , Brain/pathology , Chromosome Aberrations/genetics , Chromosome Disorders , Diagnosis, Differential , Genes, Recessive/genetics , HLA Antigens/genetics , Humans , Magnetic Resonance Imaging , Male , Wolfram Syndrome/genetics , Wolfram Syndrome/physiopathologyABSTRACT
A 54 years old female patient with primary biliary cirrhosis and pernicious anemia is reported. Primary biliary cirrhosis has been reported with numerous other autoimmune disorders, but it has to our knowledge not previously been reported in association with pernicious anemia.