Características clínicas y respuesta al recambio plasmático terapéutico en los pacientes con síndrome de Guillain Barré / Clinical characteristics and plasma exchange response in Guillain-Barré patients

RESUMEN El objetivo del estudio fue describir las características clínicas, la respuesta al tratamiento y posibles factores asociados de los pacientes con síndrome de Guillain Barré en el Instituto Nacional de Ciencias Neurológicas. Se realizó un estudio descriptivo sobre egresos hospitalarios durante el periodo 2017-2019. La respuesta al tratamiento se evaluó mediante la escala de discapacidad de Hughes. De los 31 pacientes el 61,3% eran varones, y la edad promedio fue de 50 años. Al ingreso, el 87,1% de pacientes se encontraban en el grado 3 o 4 de la escala de Hughes, la mayoría con compromiso axonal, el cual estuvo asociado a discapacidad. Solo 22 pacientes recibieron recambio plasmático; luego de seis meses el 90,9% disminuyó al menos en un grado en la escala de Hughes y el 42,8% quedaron sin discapacidad. En conclusión, se encontró un predominio del sexo masculino y del compromiso axonal, este último asociado a discapacidad.

ABSTRACT The objective of the study was to describe the clinical characteristics, treatment response and possible associated factors of patients with Guillain-Barré syndrome at the National Institute of Neurological Sciences. A descriptive study on hospital discharges was conducted during the period 2017-2019. Treatment response was evaluated based on Hughes' disability scale. From 31 patients 61.3% were males and the mean age was 50 years. At admission, 87.1% of patients were on grade 3 or 4 of Hughes scale, most of them with axonal compromise which was associated to disability. Only 22 patients received plasma exchange; 6 months thereafter, 90.9% of patients decreased by at least one degree in Hughes scale and 42.8% were left without disability. In conclusion, a male and axonal subtype predominance was found, been the latter associated to disability.

Características clínicas y respuesta al recambio plasmático terapéutico en los pacientes con síndrome de Guillain Barré / Clinical characteristics and plasma exchange response in Guillain-Barré patients

RESUMEN El objetivo del estudio fue describir las características clínicas, la respuesta al tratamiento y posibles factores asociados de los pacientes con síndrome de Guillain Barré en el Instituto Nacional de Ciencias Neurológicas. Se realizó un estudio descriptivo sobre egresos hospitalarios durante el periodo 2017-2019. La respuesta al tratamiento se evaluó mediante la escala de discapacidad de Hughes. De los 31 pacientes el 61,3% eran varones, y la edad promedio fue de 50 años. Al ingreso, el 87,1% de pacientes se encontraban en el grado 3 o 4 de la escala de Hughes, la mayoría con compromiso axonal, el cual estuvo asociado a discapacidad. Solo 22 pacientes recibieron recambio plasmático; luego de seis meses el 90,9% disminuyó al menos en un grado en la escala de Hughes y el 42,8% quedaron sin discapacidad. En conclusión, se encontró un predominio del sexo masculino y del compromiso axonal, este último asociado a discapacidad.

ABSTRACT The objective of the study was to describe the clinical characteristics, treatment response and possible associated factors of patients with Guillain-Barré syndrome at the National Institute of Neurological Sciences. A descriptive study on hospital discharges was conducted during the period 2017-2019. Treatment response was evaluated based on Hughes' disability scale. From 31 patients 61.3% were males and the mean age was 50 years. At admission, 87.1% of patients were on grade 3 or 4 of Hughes scale, most of them with axonal compromise which was associated to disability. Only 22 patients received plasma exchange; 6 months thereafter, 90.9% of patients decreased by at least one degree in Hughes scale and 42.8% were left without disability. In conclusion, a male and axonal subtype predominance was found, been the latter associated to disability.

Síndrome de Sjögren primario que debuta con polimiositis mitocondrial, neuropatía axonal y parálisis hipopotasémica: reporte de caso / Onset of primary Sjögren syndrome with mitochondrial polymyositis, axonal neuropathy, and hypokalaemic paralysis: Case report

RESUMEN El síndrome de Sjögren es una entidad multisistémica de naturaleza autoinmune, clásicamente considerada una exocrinopatía debido a la alta frecuencia de síntomas secos (queratoconjuntivitis seca, xerostomía) como resultado de infiltración poliglandular por linfocitos autorreactivos. Sin embargo, menos del 10% de estos pacientes puede iniciar con manifestaciones extraglandulares severas, traducidas en peores desenlaces a largo plazo. Se presenta el caso de una gestante que inició con síndrome de debilidad aguda proximal relacionada con miositis con enfermedad mitocondrial e hipopotasemia severa, en el contexto de acidosis tubular renal distal, como manifestación extraglandular de síndrome de Sjögren primario. Se discuten brevemente manifestaciones neurológicas de esta entidad, incluyendo aquellas secundarias a trastornos metabólicos precipitados por compromiso autoinmune.

ABSTRACT Sjögren's syndrome is a multisystemic autoimmune disorder. It is classically considered as an exocrine disease, given the high frequency of dry symptoms (keratoconjunctivitis sicca, xerostomia) as a result of poly-glandular infiltration by autoreactive lymphocytes. However, less than 10% of these patients can onset with severe extra-glandular manifestations, resulting in worse long-term outcomes. The case of a pregnant woman is presented, who debuted with acute proximal weakness syndrome related to myositis with mitochondrial pathology and severe hypokalaemia in the context of distal renal tubular acidosis, as an extra-glandular manifestation of primary Sjögren's syndrome. Neurological manifestations of this condition are briefly discussed, including those secondary to metabolic disorders precipitated by autoimmune compromise.

Two novel mutations in the GAN gene causing giant axonal neuropathy.

BACKGROUND: Giant axonal neuropathy (GAN) is a rare neurodegenerative disease transmitted in an autosomal recessive mode. This disorder presents motor and sensitive symptoms with an onset in early childhood. Progressive neurodegeneration makes the patients wheelchair dependent by the end of the second decade of life. Affected individuals do not survive beyond the third decade of life. Molecular analysis has identified mutations in the gene GAN in patients with this disorder. This gene produces a protein called gigaxonin which is presumably involved in protein degradation via the ubiquitin-proteasome system. However, the underlying molecular mechanism is not clearly understood yet. METHODS: Here we present the first patient from Mexico with clinical data suggesting GAN. Sequencing of the GAN gene was carried out. Changes in the nucleotide sequence were investigated for their possible impact on protein function and structure using the publicly available prediction tools PolyPhen-2 and PANTHER. RESULTS: The patient is a compound heterozygous carrying two novel mutations in the GAN gene. The sequence analysis revealed two missense mutations in the Kelch repeats domain. In one allele, a C>T transition was found in exon 9 at the nucleotide position 55393 (g.55393C>T). In the other allele, a transversion G>T in exon 11 at the nucleotide position 67471 (g.67471G>T) was observed. Both of the bioinformatic tools predicted that these amino acid substitutions would have a negative impact on gigaxonin's function. CONCLUSION: This work provides useful information for health professionals and expands the spectrum of disease-causing mutations in the GAN gene and it is the first documented case in Mexican population.

Pili canaliculi as manifestation of giant axonal neuropathy

Abstract Giant axonal neuropathy is a rare autosomal recessive neurodegenerative disease. The condition is characterized by neurons with abnormally large axons due to intracellular filament accumulation. The swollen axons affect both the peripheral and central nervous system. A 6-year old female patient had been referred to a geneticist reporting problems with walking and hypotonia. At the age of 10, she became wheelchair dependent. Scanning electron microscopy of a curly hair classified it as pili canaliculi. GAN gene sequencing demonstrated mutation c.1456G>A (p.GLU486LYS). At the age of 12, the patient died due to respiratory complications. Dermatologists should be aware of this entity since hair changes are considered suggestive of GAN.

Pili canaliculi as manifestation of giant axonal neuropathy.

Giant axonal neuropathy is a rare autosomal recessive neurodegenerative disease. The condition is characterized by neurons with abnormally large axons due to intracellular filament accumulation. The swollen axons affect both the peripheral and central nervous system. A 6-year old female patient had been referred to a geneticist reporting problems with walking and hypotonia. At the age of 10, she became wheelchair dependent. Scanning electron microscopy of a curly hair classified it as pili canaliculi. GAN gene sequencing demonstrated mutation c.1456G>A (p.GLU486LYS). At the age of 12, the patient died due to respiratory complications. Dermatologists should be aware of this entity since hair changes are considered suggestive of GAN.