This is an 18-year-old male, with no medical or surgical history of interest or toxic habits, who came to the hospital due to sudden headache, vomiting and blurred vision that rapidly progressed to blindness and moderate alcohol consumption.
No other predisposing factor was found in previous days.
Physical examination revealed fever of 38.5 C and blood pressure of 140 mmHg.
Cardiopulmonary auscultation and abdominal examination were normal.
In the neurological examination the patient was conscious and oriented, with conserved language, with mobility of the extremities symmetrically and with preserved strength and sensitivity; osteotendinous reflexes were present; there was no reactive ataxia to pupils.
Fetal abnormalities present a markedly infantile appearance, with hypogonadism and hypertrichosis, important thinness, highlighting long extremities with scarce muscle mass, although without presenting weakness or fascicula
Blood tests revealed leukocytosis of 20,200 cells/μl with 95% neutrophils, lactate dehydrogenase (LDH) 587 IU/l, GPT creatine 47 IU/22
Lactic acid 63.4 mg/dl (normal range: 3.6-18).
Cerebrospinal fluid (CSF) showed chest X-ray abnormalities (mm3, 1 leukocyte/mm3, glucose 98 mg/dl (glucose 130 mg/dl) and protein 52 mg/dl. The electrocardiogram (ECG) showed no
In arterial hypertension breathing room air: pH 7.28, pO2 103 mmHg, pCO2 24 mmHg, HCO3 11 mmol/L, BE -13 mmol/L, O2 saturation 98%.
Toxic screening was negative for salicylates, paracetamol, benzodiazepines, tricyclic antidepressants and barbits.
The fundus examination revealed normal anterior papillae and nystagmus, horizontal nystagmus and normal eye fundus.
Cranial computerized axial tomography (CAT) showed absence of significant acute injury, particularly the optic pathway, with calcifications in the basal ganglia and sellar calcification with chiasma without injury.
Occurrence of blindness with metabolic alterations that occur after alcohol consumption, the possibility of methanol poisoning was considered, due to the fact that treatment with intravenous ethanol was initiated due to continuous antivenous treatment initiated 40 hours.
During admission to the Intensive Care Unit (ICU), she remained hemodynamically stable and afflicted.
Thirty hours after his admission he began to show improvement of his condition, being able to see the objects and even read in an acceptable way.
Magnetic resonance imaging (MRI) of the brain showed bilateral cortical occipital infarcts.
The characteristics of the case were established as mitochondrial pathology, for which a muscle biopsy was performed and scraped red fibers were visualized with the Gomori trichrome technique.
The histochemical study used the succinate dehydrogenase technique, which showed mitochondrial aggregates in the periphery of muscle fibers.
The biochemical study of the respiratory chain showed deficits in complexes I and IV.
Unfortunately it was not possible to study mitochondrial genetics and given the aggressiveness of the test it was decided not to repeat muscle biopsy in the acute phase.
Upon discharge from the ICU, the patient presented again 72 hours later, a feeling of delusional lights and a new feeling of blindness.
At that time, treatment with coenzyme Q10 was started, but blindness persisted at hospital discharge.
During follow-up and subsequent study of the patient, a brain CT scan was performed on the mother (52 years old, with insulin-dependent diabetes mellitus and severe hearing loss), who also presented basal ganglia.
