[Pre-evening meal administration of tacrolimus improved refractory ocular symptoms in two young children with latent general myasthenia gravis].

We report two patients with latent general myasthenia gravis (MG) with refractory ocular symptoms who were successfully treated with pre-evening meal administration of tacrolimus. Patient 1 was a 4-year-old girl with persistent ocular symptoms despite high-dose steroid therapy and thymectomy. Oral tacrolimus was initiated at the age of 3 years, which was resulted in complete resolution of symptoms.

High-density areas on muscle CT in childhood-onset Pompe disease are caused by excess calcium accumulation.

We report two patients with childhood-onset Pompe disease showing striking changes with high-density areas on skeletal muscle CT, not seen in adult- or infantile-onset forms of this disease. While the anterior compartment of the thigh muscles was less affected in the adult-onset form, the rectus femoris and tibial muscles were preferentially involved from the early stage in the childhood-onset form of Pompe disease. The high-density areas became increasingly diffuse with disease progression, producing a marbled pattern and ultimately resulting in homogeneous high density and muscle atrophy.

[Treatment approach to congenital myasthenic syndrome in a patient with acetylcholine receptor deficiency].

Congenital myasthenic syndromes (CMS) are rare heterogeneous disorders of neurotransmission caused by genetic defects of neuromuscular junction molecules. While CMS patients have been reported worldwide, in Japan there have been only a few descriptions of adult CMS patients with acetylcholinesterase (AChE) deficiency and slow channel syndrome. Herein, we report a Japanese CMS patient with acetylcholine receptor (AChR) deficiency, diagnosed during childhood, and our treatment approach to the patient.

Benefits of FK 506 for refractory eye symptoms in a young child with ocular myasthenia gravis.

Recently, there have been many reports on the efficacy and safety of tacrolimus (FK506) treatment for adult patients with intractable generalized myasthenia gravis (MG). There have also been a few reports of successful FK506 therapy in patients with severe childhood-onset generalized MG involving a myasthenic crisis. Herein, we report the efficacy of FK 506 for refractory ocular symptoms in a 3-year-old girl with ocular type MG.

[Carry over: practical experience of persons with severe motor and intellectual disabilities].

Tomo clinic is a special clinic for the handicapped. We have supported a day care center and a group home for persons with severe motor and intellectual disabilities (SMID) for over ten years. It seems that physical well-being declines dramatically in persons with SMID over 20-years old.

[A two-year-old infant with a myopathic form of very-long-chain Acyl-CoA dehydrogenase deficiency].

A two-year-three-month old girl was hospitalized for detailed examination following repeated hyper-creatine kinasemia and cervical muscle cramps induced by pyrexia and persistent hypertonicity of the cervical muscles. Physical examination showed mild hypotonia but no muscle weakness. Induction of symptoms by continuous cervical muscular exercise and the appearance of dicarboxylic aciduria during the fasting test indicated a disorder of fatty acid oxidation.

A 1-year-old infant with McArdle disease associated with hyper-creatine kinase-emia during febrile episodes.

A 14-month-old girl was hospitalized due to repeated hyper-creatine kinase (CK)-emia during pyrexia. Mild hypotonia was observed, but other physical and neurological findings were unremarkable. The serum CK level was normal at rest or normothermia.

Hyperzincemia with systemic inflammation: a heritable disorder of calprotectin metabolism with rheumatic manifestations?

A boy had infantile-onset systemic inflammation, growth failure, hepatosplenomegaly, anemia, leukocytopenia, progressive muscular dystrophy, and hypercalprotectinemia, resulting in marked hyperzincemia. His mother had a history of chronic arthritis since childhood and also showed hypercalprotectinemia/hyperzincemia. We postulate an inherent defect in calprotectin metabolism.