A non-classical clinical course of Barth Syndrome (BTHS) A six year-old boy, born to non-consanguineous, healthy parents was primarily referred because of growth retardation. Auxological parameters were below the 3rd percentile after having been normal at birth. Especially the extent of microcephaly (<3 SD) was impressive. Additionally, mild generalized muscular hypotonia was present. Psychomotor development was regular. Gastrointestinal, endocrinological and nutritional workup revealed no explanatory pathological findings. Metabolic workup including lactate profile, pyruvate and lactate/pyruvate ratio was normal. MRI of the brain and MR-spectroscopy showed no pathologies. Eighteen months later the patient presented with episodes of painless muscular weakness and severe exercise intolerance triggered by a febrile infection. Clinical findings included muscular weakness, hypotonia and positive Gower's sign in the absence of muscular atrophy. Diagnostic workup again was unremarkable. The combination of unclear muscular symptoms and persistent growth retardation prompted mitochondrial workup. Activity of complex I, III and IV in oxidative phosphorylation was reduced. Whole exome sequencing revealed a mutation in the tafazzine gene described as associated with early onset, severe BTHS. The diagnosis of BTHS was supported by a specific pattern of fatty acid profile of cardiolipin. Nevertheless, characteristic signs and symptoms for BTHS such as cardiomyopathy, neutropenia or 3-methylglutaconic aciduria have never been observed in the patient.

A 6-year-old boy of Roma decent, born to nonconsanguineous, healthy parents was primarily referred because of growth retardation. Auxological parameters were below the 3rd percentile after having been normal at birth. The 3rd percentile had been crossed at age 12 months, without any catch-up growth afterward. Especially, the extent of microcephaly (< 3 standard deviation) was impressive. In addition, mild generalized muscular hypotonia was present. Psychomotor development was regular. Gastrointestinal, endocrinological, and nutritional work-up revealed no explanatory pathological findings. Metabolic work-up including lactate profile, pyruvate and lactate/pyruvate ratio, urinary organic acids, plasma amino acid profile, ammonia, creatine kinase, total and free carnitine, and acylcarnitine profile was normal. Magnetic resonance imaging (MRI) of the brain and MR spectroscopy showed no pathologies. Overall, 18 months later, the patient presented with episodes of painless muscular weakness and severe exercise intolerance triggered by a febrile infection. Clinical findings included muscular weakness, hypotonia, and positive Gower’s sign in the absence of muscular atrophy.

Acute headaches with remittent vomiting and seizures represent an emergency in neuropediatric patients. Severe reversible posterior encephalopathy is a rare diagnosis in childhood. The literature provides case reports to the course of adults. The term has been used first in 1996 by Hinchey on the occasion of a series of 15 cases. Those patients exhibited a reversible syndrome with headache, neuropsychological distinctive features, visual abnormalities (blurry gaze, visual hallucinations, visual neglect, hemianopia, and cortical blindness) and seizures. The posterior reversible encephalopathy syndrome (PRES) is known under merely different designations and a misnomer, because it is not reversible in all of the cases, not always limited to the posterior regions of the brain and the gray matter often is affected too. The causes are versatile. Triggers primarily are chemotherapeutic agents and immunosuppressive drugs, renal diseases as well as accelerated blood pressure with hypertensive crises. These are responsible for the development of a vasogenic edema. Magnetic resonance imaging of the brain is the favored modality of investigation. Cerebral edema involving the posterior regions of the cerebral hemispheres, particularly the posterior parietal and occipital lobes, is seen as increased T2 and fluid attenuated inversion recovery signal. Apparent diffusion coefficient maps show increased signal, and diffusion weighted imaging images normal or decreased signal intensity of lesions. These features can differentiate between vasogenic cerebral edema in PRES. Prognostic crucial is a rapid start of an efficient therapy (decline of the hypertension and stop of the responsible medication). We report the case of a 14-year-old boy with PRES within the frame work of an unknown hypertension before admission to the hospital and a girl aged 16 years with unknown origin who also presented with PRES. Furthermore, we want to give an overview of the literature with a special attention to the publications to PRES in children.