Low-Glycemic-Index Diet Relieving Migraine but Inducing Muscle Cramps.

Low-glycemic-index diet (LGID) has been shown to exhibit a beneficial effect in patients with epilepsy, exercise-induced dyskinesia, writer's cramp, migraine, and in myopathic mice. A 57-year-old female with classical migraine with and without aura since 14 years of age and a frequency of 8 to 12 attacks per month experienced some relief using a nasal spray of zolmitriptan since 10 years. Occasionally, she developed a status migrainosus lasting up to 5 days. At the age of 57 years, she started an LGID and recognized a significant decline of frequency and intensity of her migraine attacks but also of other abnormalities shortly after starting the diet. After 8 weeks on the LGID muscle cramps of the left calve, which radiated to the thighs, buttocks, and from there to the right leg, accompanied by fasciculations developed. The slight modification of the LGID, naproxen, and novaminsulfon relieved the cramps. LGID may have a beneficial effect on classical migraine but may induce muscle cramps, which require modification of the LGID.

The Tip of the Iceberg in Maternally Inherited Diabetes and Deafness.

Maternally inherited diabetes and deafness (MIDD) is not only a disorder of the pancreas and ears but a multisystem mitochondrial disorder syndrome. Hypogonadism, however, has not been reported as a phenotypic feature of MIDD. We report a single case of a patient with MIDD which manifested clinically at 41 years old. In addition to diabetes and deafness, he manifested with seizures, ataxia, myopathy, and hypogonadism. We used established methods for the routine workup of this patient. MIDD is indeed a multisystem condition. A previously undescribed phenotypic feature of MIDD may be hypogonadism.

Compromiso renal en MELAS / Renal involvement in MELAS

No disponible

Gastrointestinal manifestations of mitochondrial disorders: a systematic review.

Mitochondrial disorders (MIDs) due to respiratory-chain defects or nonrespiratory chain defects are usually multisystem conditions [mitochondrial multiorgan disorder syndrome (MIMODS)] affecting the central nervous system (CNS), peripheral nervous system, eyes, ears, endocrine organs, heart, kidneys, bone marrow, lungs, arteries, and also the intestinal tract. Frequent gastrointestinal (GI) manifestations of MIDs include poor appetite, gastroesophageal sphincter dysfunction, constipation, dysphagia, vomiting, gastroparesis, GI pseudo-obstruction, diarrhea, or pancreatitis and hepatopathy. Rare GI manifestations of MIDs include dry mouth, paradontosis, tracheoesophageal fistula, stenosis of the duodeno-jejunal junction, atresia or imperforate anus, liver cysts, pancreas lipomatosis, pancreatic cysts, congenital stenosis or obstruction of the GI tract, recurrent bowel perforations with intra-abdominal abscesses, postprandial abdominal pain, diverticulosis, or pneumatosis coli. Diagnosing GI involvement in MIDs is not at variance from diagnosing GI disorders due to other causes. Treatment of mitochondrial GI disease includes noninvasive or invasive measures. Therapy is usually symptomatic. Only for myo-neuro-gastro-intestinal encephalopathy is a causal therapy with autologous stem-cell transplantation available. It is concluded that GI manifestations of MIDs are more widespread than so far anticipated and that they must be recognized as early as possible to initiate appropriate diagnostic work-up and avoid any mitochondrion-toxic treatment.

Propofol Is Mitochondrion-Toxic and May Unmask a Mitochondrial Disorder.

There are indications that preexisting mitochondrial disorders or beta-oxidation defects predispose for propofol infusion syndrome. This review aimed at investigating if propofol infusion syndrome occurs exclusively in patients with mitochondrial disorder and if propofol can unmask a mitochondrial disorder. Propofol infusion syndrome has been reported in genetically confirmed mitochondrial disorder patients. In addition, muscle biopsy of patients with propofol infusion syndrome revealed complex IV or complex II deficiency. In animal studies propofol disrupted the electron flow along the respiratory chain and decreased complex I, complex II, and complex III of the respiratory chain. In addition, propofol disrupted the permeability transition pore and reduced the mitochondrial membrane potential. In conclusion, propofol is mitochondrion-toxic and mitochondrial disorder patients should not receive propofol in high dosages over a prolonged period of time. Short-term application of propofol should be safe even in mitochondrial disorder patients. Not only does propofol infusion syndrome occur in mitochondrial disorder patients, but mitochondrial disorder patients are likely at higher risk to develop propofol infusion syndrome. Patients who develop propofol infusion syndrome should be screened for mitochondrial disorder. Propofol infusion syndrome is preventable if risk factors are thoroughly assessed, and if long-term propofol is avoided in patients at risk for propofol infusion syndrome.

Prevalence of neoplasms in definite and probable mitochondrial disorders.

There are some indications that the prevalence of benign and malign neoplasms is increased in patients with a mitochondrial disorder (MID). This study aimed at calculating the prevalence of malign and benign neoplasms in MID patients compared to the general population. Among 103 adult patients with definite or probable MID 16 had a malignancy (15.5%) and 11 (10.7%) a benign neoplasm. Four patients had thyroid cancer, three patients had prostate cancer, two patients each colon cancer, or ovarian cancer, and one each lung cancer, basalioma, Paget carcinoma of the skin, Bowen disease, renal cancer, and urinary bladder cancer. One patient had two carcinomas. Five patients had lipomas, two thyroid adenoma, and one each meningeoma, ovarian adenoma, hemangioma of the liver, and pituitary adenoma. Compared to the general population, the prevalence of malignancies was 3-4 fold increased in definite and probable MIDs. Compared to a cohort of myotonic dystrophy type-1 patients, the prevalence was 1.4 fold increased. In conclusion, adult MID patients seem to carry an increased risk to develop malignancy or a benign neoplasm. Females with a MID seem to be predominantly at risk to develop a neoplasm.