Background: In a family with three male siblings two died at the age of two and three years, respectively. Both affected brothers had deficits of their motor functions and coordination as well as nystagmus. Their now five year-old male sibling is clinically unaffected.
Case presentation: The older sibling suddenly died at two years of age. Eating a piece of cake he suddenly developed erythema and collapsed immediately. Resuscitation efforts were unsuccessful. Our present patient presented in a similar fashion at three years of age. During a car ride his face suddenly reddened, he sweated, his hands became cold and he almost immediately lost consciousness. His blood pressure was 150/90 mmHg. He had strong capillary pulses despite the cold periphery and a body temperature of 34.5 °C. Pulmonary edema and severe left heart failure with massive dilatation of the left ventricle were confirmed by radiological imaging and cardiac ultrasound. High dose catecholamine support soon had to be initiated because of severe hypotension. With improving condition the structure of the left ventricle became normal. Blood pressure was difficult to control with systolic pressures rising to more than 200 mmHg despite treatment. Weaning from ventilation was never possible, the patient ultimately died.
Results: In our present patient, hypertension did not have an anatomical correlate, renal arterial stenosis and pheochromocytoma were excluded. Cerebral MRI before deterioration was inconspicuous. Fundoscopic examination after deterioration showed severe optic nerve atrophy bilaterally. Biochemical examination of muscle tissue revealed a reduced ATP production rate combined with a strongly reduced enzymatic activity of complex I. The complex I deficiency was also expressed in fibroblasts. The clinically unaffected remaining brother has moderately reduced activity of the complex I enzyme in muscle tissue.
Conclusion: Two brothers acutely deteriorated with sudden flushing and collapse, the outcome was fatal in both cases. Both had slight motoric retardation and nystagmus. The younger brother, in whom resuscitation efforts initially were successful, showed widely uncontrollable hypertension. To our knowledge this is the first description of a complex I deficiency presenting with fatal hypertensive crisis.
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Lohmeier, K., Klusmann, A., van den Heuvel, L. et al. 161 Fatal Hypertensive Crisis As Presentation Of Complex I Deficiency. Pediatr Res 56, 491 (2004). https://doi.org/10.1203/00006450-200409000-00184