Urinary retention as an initial manifestation of adrenomyeloneuropathy
Authors: Alves Renata Cristine , Silvério Gabriel André , Possan Pedro Arthur , Marchetti Mateus Pinto , Weber Isabela Louise , Terra Vera Cristina , Socher Karen Luiza Ramos , Watanabe Nancy , Caggiano Carlos Cesar Conrado 
Published: July 2023

Patient RMS, male, 38-year-old, previously dyslipidemic, was admitted to the emergency complaining of severe abdominal pain in the lower abdomen, diaphoresis, and acute retention, after drinking alcohol (ingestion of six glasses of beer). After being submitted to a urinary catheter — with a flow of 2000 ml of urine-, the patient showed instantaneous improvement in pain complaints and diaphoresis, remaining asymptomatic afterwards. He reported a previous feeling of mild difficulty -eventual- to urinate in recent years. He denied constipation or associated erectile dysfunction. Upon neurological examination, the patient was alert, preserved mental state, oriented in timespace-person, mobilizing the four limbs with globally preserved strength (grade V), without gait, static balance or sensory dysfunction. Eumetric and eudiadochokinetic. With no alterations in the assessment of the cranial nerves, but with signs of bilateral pyramidal release — cutaneous-plantar extension, presence of hyperreflexia and clonus. On inspection, eutrophic patient, atypical facies, bald and presented hyperpigmentation of the skin. He denied any type of previous sphincter alteration, as well as any other previous neurological symptoms. When actively questioned about his personal history and life habits, the patient also reported a history of having discovered an adrenal insufficiency in routine exams years ago, and that after extensive investigation and treatment with corticosteroids for months, without much improvement (sic), it was decided to interrupt the follow-up. Regarding alcohol consumption, he said to consume only socially. He denied frequent abuse or use of other drugs (licit or illicit). As for the family history, he said that years ago a brother was diagnosed with Guillain-Barré syndrome, and he has a nephew of the maternal family with a genetic neurological disease. He mentioned that his grandmother underwent genetic investigation, and it was discovered that she had the same disease. He denies any related prior personal investigation. Patient underwent laboratory and imaging investigation. Laboratory tests, including partial urine, serology, inflammatory and rheumatological tests, tumor markers, serum vitamin levels, thyroid function, kidney and liver functions, that were normal. Ultrasound of the kidneys and urinary tract was unchanged. Abdominal tomography showed only a small fecaloma in the rectal ampulla. Magnetic resonance imaging of the brain showed the presence of a slight increase in the periventricular white matter signal in the posterior portions of the brain parenchyma, affecting the bilateral occipital and parietal lobes on brain resonance. No significant degenerative or other changes in the spinal cord were seen on full-spine MRI. The cerebrospinal fluid analysis resulted in parameters within normal limits. Due to the suspicion of hereditary neurological pathology with a pattern of inheritance suggestive of X-linked disease, associated with adrenal insufficiency, a peroxisomal panel was used, which showed increased concentrations of C24:0 and C26:0 concentrations, and in C24/C22 and C26/C22 ratios (very long chain fatty acids), which confirmed the diagnosis of adrenomyeloneuropathy.