Association of metreleptin treatment and dietary intervention with neurological outcomes in Celia's encephalopathy.

Celia's encephalopathy (progressive encephalopathy with/without lipodystrophy, PELD) is a recessive neurodegenerative disease that is fatal in childhood. It is caused by a c.985C>T variant in the BSCL2/seipin gene that results in an aberrant seipin protein. We evaluated neurological development before and during treatment with human recombinant leptin (metreleptin) plus a dietary intervention rich in polyunsaturated fatty acids (PUFA) in the only living patient. A 7 years and 10 months old girl affected by PELD was treated at age 3 years with metreleptin, adding at age 6 omega-3 fatty acid supplementation. Her mental age was evaluated using the Battelle Developmental Inventory Screening Test (BDI), and brain PET/MRI was performed before treatment and at age 5, 6.5, and 7.5 years. At age 7.5 years, the girl remains alive and leads a normal life for her mental age of 30 months, which increased by 4 months over the last 18 months according to BDI. PET images showed improved glucose uptake in the thalami, cerebellum, and brainstem. This patient showed a clear slowdown in neurological regression during leptin replacement plus a high PUFA diet. The aberrant BSCL2 transcript was overexpressed in SH-SY5Y cells and was treated with docosahexaenoic acid (200 µM) plus leptin (0.001 mg/ml) for 24 h. The relative expression of aberrant BSCL2 transcript was measured by qPCR. In vitro studies showed significant reduction (32%) in aberrant transcript expression. This therapeutic approach should be further studied in this devastating disease.

Encefalopatía hiperamoniémica tras cistectomía radical y derivación urinaria. Tratamiento nutricional / Hyperammonemic encephalopathy after urinary diversion. Diet therapy

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Diagnostic tools of early brain disturbances in an asymptomatic neonate with maple syrup urine disease.

Maple syrup urine disease (MSUD) is a rare inherited metabolic disorder resulting from the defective activity of branched-chain 2-ketoacid dehydrogenase complex. Routine screening of newborn with tandem mass spectroscopy on the third day of life may detect elevated branched-chain amino acids in blood before the appearance of encephalopathic symptoms in MSUD cases. If undiagnosed by such a routine screening test, patients often present with encephalopathy and seizures. Clinical neurologic examination is supplemented by electroencephalography and imaging. Here, we report abnormal amplitude-integrated electroencephalography, electroencephalography, magnetic resonance imaging, and magnetic resonance imaging spectroscopy findings in a neurologically asymptomatic male newborn who was diagnosed with MSUD at the third week of life. These neurologic disturbances disappeared at the fourth month of life with appropriate special diet. Therefore, even in already asymptomatic cases, early neurologic deterioration of brain metabolism and structure can be detected with these early laboratory findings, indicating the importance of early diagnosis and management. Patients may also benefit from these investigations during the follow-up period.

Adult-onset cerebral folate deficiency.

OBJECTIVE: To report new manifestations of cerebral folate deficiency, a rare metabolic autoimmune syndrome,in an adult. DESIGN: Case report. SETTING: University teaching hospital. PATIENT: A 58-year-old woman with progressive memory loss and myoclonus presented for medical attention. Results of cerebral spinal fluid analysis showed low levels of tetrahydrobiopterin and 5-methyltetrahydrofolate. The patient's serum folate level was normal. Serum contained folate receptor 1 blocking and binding antibodies. RESULTS: The patient was treated successfully with folinic acid supplementation, and after 6 months of treatment,clinical symptoms had resolved. CONCLUSIONS: To our knowledge, we report the first case of adult-onset cerebral folate deficiency. Furthermore, this condition could represent a treatable form of early-onset dementia.

Fígado e nutrição / Liver and nutrition

A desnutrição calórico-proteica é comum em todas as formas de cirrose e diminui o prognóstico naqueles pacientes na lista de espera ao transplante hepático. O racional na utilização de terapia nutricional naqueles pacientes na lista de espera ao transplante hepático. O racional na utilização de terapia nutricinal nesses pacientes baseia-se na grande melhora, oumesmo na estabilização do quadro metabólico, dando tempo para a regeneração do hepatócito. O autor revisa a terapêutica nutricional na abordagem das doenças hepáticas.

As primarily a metabolic organ, the liver orchestrates a complex away of biochemical process. The regulation of protein and energy metabolism is concentrated in the liver. Consequently the patients with liver disease have abnormal protein calorie malnutrition. The present work makes a revision of as the malnutrition it can alter the prognostic of cirrhotic patients.