Gastrointestinal manifestations in Parkinson's disease: prevalence and occurrence before motor symptoms.

To assess the prevalence of gastrointestinal symptoms (GIS) in Parkinson's disease (PD) compared to control subjects and their timing of appearance in relationship to the onset of motor symptoms. There is a rostrocaudal gradient of alpha-synuclein (α-SYN) neuropathology in the enteric nervous system at early stages of PD with higher burden in the upper than the lower gut. However, only constipation has been recognized as a premotor gastrointestinal manifestation of PD. 129 PD patients and 120 controls underwent a structured questionnaire to assess the presence of GIS and, in PD patients, the time of their appearance respect to the onset of motor manifestations. GIS significantly more prevalent in PD patients were dry mouth, drooling, dysphagia, constipation and defecatory dysfunction. Constipation and defecatory dysfunction preceded motor manifestations. Whereas gastroparesis symptoms preceded motor manifestations, their prevalence was not significantly different from controls. Despite evidence of a higher α-SYN burden in the upper gut, only constipation and defecatory dysfunction were prominent premotor GIS of PD.

Dry mouth: an overlooked autonomic symptom of Parkinson's disease.

There is involvement of salivary glands by α-synuclein pathology in PD. However, the prevalence of dry mouth has not been systematically assessed in these patients. We studied 97 PD patients and 86 controls using a structured questionnaire. Dry mouth was reported by 60.8% of PD patients and 27.9% of controls (p < 0.0001). Dry mouth and drooling coexisted in 30% of cases. Only 12% of patients had reported dry mouth to their physicians. Dry mouth is a frequent but underreported symptom and may be an early manifestation of autonomic involvement in PD.

Botulinum toxin: treatment of self-mutilation in patients with Lesch-Nyhan syndrome.

Lesch-Nyhan syndrome (LNS) is a rare X-linked recessive disorder involving purine metabolism caused by the congenital absence of hypoxanthine guanine phosphoribosyl transferase. A characteristic feature of LNS is the appearance of intractable self-injurious behavior, usually in the form of severe lip and finger biting. The mechanism behind this severe self-mutilating behavior is unknown, and is one of the main challenges in the management of this condition. We here report the case of a 30-year-old man with a confirmed diagnosis of LNS who was successfully treated for self-mutilation of his lips with repeated botulinum toxin A (BTX-A) injections in the facial perioral muscles. Our findings suggest that treatment with BTX-A helped reduce self-abusive behavior in this patient. Our case illustrates that BTX-A injections can be a useful therapeutic approach in patients with self-abusive behavior.

Síndrome de Hoffmann: manifestación inicial del hipotiroidismo / Hoffmann's syndrome: inicial manifestation of hypothyroidism

Introducción: El síndrome de Hoffmann es definido como la combinación de hipotiroidismo con miopatía, rigidez, calambres e hipertrofia muscular. Dicha forma de miopatía tiroidea es rara y generalmente acompaña a los pacientes con hipotiroidismo severo y de larga evolución. Caso clínico: Paciente que ingresa por calambres, debilidad muscular generalizada a predominio proximal y aumento de las masas musculares en miembros inferiores, con síntomas y signos sugestivos de hipotiroidismo que fueron confirmados por estudios hormonales de T3,T4,TSH y la miopatía por estudios enzimáticos del tejido muscular y biopsia muscular. La Electromiografía fue normal. Conclusión: Comunicamos un caso de síndrome de Hoffmann por ser la manifestación inicial de hipotiroidismo y de rara presentación.

Introduction: Hoffmann´s syndrome has been described as a combination of hypothyroidism and muscular stiffness, cramps and muscular hypertrophy. This form of thyroid myopathy is rare, and generally occurs in patients with a long history of severe hypothyroidism. Clinical case: a patient is admitted to the hospital complaining of muscular cramps and weakness, and experiencing an increase of muscular mass predominantly in the lower extremities, with symptoms and signs suggestive of hypothyroidism documented by T3, T4 and TSH levels. Enzyme muscular tissue assays support the diagnosis of myopathy. Electromyographic findings were unremarkable. Conclusion: We report a case of Hoffmann´s syndrome as the initial hypothyroidism presentation of for being a rare presentation of the condition.