X-linked myopathy with excessive autophagy: First report of an Israeli family presenting with late onset lower limb girdle weakness

X-linked myopathy with excessive autophagy (XMEA) is a rare disorder characterized by slow progressive muscle weakness and distinctive pathology of excessive autophagic vacuoles on muscle biopsy. Here we report on five patients, in a single family, with proximal lower limb weakness. The proband, a 25-year-old man, presented with 5 years of progressive lower limbs proximal muscle weakness. His maternal grandfather and three of his maternal male cousins had similar clinical findings and were initially suspected to have Becker muscular dystrophy. Muscle biopsy in two affected family members demonstrated autophagic myopathy, and guided the genetic investigations to the identification of a pathogenic mutation, c.272G > C in the VMA21 gene, known to cause XMEA [1]. To the best of our knowledge this is the first identified Israeli Jewish family afflicted by XMEA.     

Late onset generalized myasthenia gravis presenting with facial weakness and bulbar signs without extraocular muscle involvement

Bilateral facial palsy is a common sign of autoimmune myasthenia gravis (MG). However, facial muscle weakness without clinical signs of extraocular muscle (EOM) involvement is extremely rare. We describe a late onset generalized MG presenting with facial weakness and bulbar signs without EOM deficits. The diagnosis was based on neurophysiological assessment and positive acetylcholine receptor antibody titer. Thymoma was excluded. The clinical response to corticosteroids, pyridostigmine and intravenous immunoglobulin was complete. EOM weakness was never observed during a 3-year follow-up, also during a later exacerbation of MG.     

A patient with neuroborreliosis presenting gadolinium-enhanced MRI lesions in bilateral facial nerves]

We report a 33-year-old man with bilateral facial paralysis due to neuroborreliosis. About three weeks after rhinorrhea and fever lasting four days, he noticed fatigue in the legs and paresthesia in all four extremities. Another week later, he developed paresthesia in his tongue and bilateral facial muscle weakness, and was admitted to our hospital. On admission, neurological examination revealed moderate bilateral facial muscle weakness, mild paresthesia in the tongue and four extremities, and decreased Achilles tendon reflex bilaterally. Mild pleocytosis and increased protein were found in the cerebrospinal fluid (CSF). IgM antibodies that reacted with the antigens of Borrelia garinii and Borrelia afzelii were found in his serum. Clinically and serologically, he was thus diagnosed as having neuroborreliosis. Brain MRI revealed gadolinium-enhanced lesions of the bilateral facial nerves in the facial nerve canal portion. After three weeks of treatment with 100 mg/day doxycycline and 2 g/day ceftriaxone sodium, his symptoms and CSF abnormalities were rapidly improved. Although facial nerve paralysis is a major symptom of neuroborreliosis, the present report is the first to detect the inflammatory lesions of the facial nerves in the facial nerve canal portion by MRI.     

The Amytal interview in the diagnosis of late onset psychosis with cultural features presenting as catatonic stupor

A case history of a man with atypical psychosis who exhibited catatonic stupor is reported. Amytal interview procedures used and the differential diagnosis for catatonia are discussed. Response to Loxitane was excellent, though this was clouded by the patient's belief in root medicine, a source of cultural incongruity between him and his therapist. Distinguishing between psychosis and cultural belief systems is shown to be essential in therapy.     

以双下肢无力为首发症状的主动脉夹层一例

<正>患者男性,51岁,主因双下肢无力、麻木伴尿潴留4 h,于2015年1月29日入院。患者入院前4 h排便后突然出现左下肢无力、麻木,抬腿困难,但可自主站立,行走需搀扶,右下肢运动和感觉正常,至当地医院就诊。就诊过程中症状进行性加重伴尿潴留,无发热、头痛、头晕、失语,无胸闷、胸痛、心悸;头部和腰椎CT检查未见明显异常;临床疑似缺血性卒中,但未予特殊处理。为求进一步诊断与治疗,至我院急诊就诊,急诊以疑似缺血性卒中收     

Seizures as a presenting feature of late onset metachromatic leukodystrophy

OBJECTIVES: We describe 2 patients with epilepsy as an early manifestation of late onset metachromatic leukodystrophy (MLD). METHODS AND RESULTS: The first patient presented with epileptic seizures at the age of 34 years while neurological and cognitive abnormalities appeared later. MRI findings were compatible with leukodystrophy and low levels of arylsulphatase-A activity confirmed MLD. The second patient developed epileptic seizures and behavioral disturbances at the age of 19 years. She remained stable and seizure free for 8 years. Afterwards she developed uncontrolled epileptic seizures and status epilepticus as well as neurological and cognitive impairment. Leukodystrophy was diagnosed by MRI findings and low levels of arylsulphatase-A activity were compatible with MLD. CONCLUSION: Our 2 cases postulate that epileptic seizures may be an early and prominent manifestation of late onset MLD.     

Case report: Frontal lobe tumor presenting as late onset depression

A 64-year-old female with no past psychiatric history presented with a two-month history of depressive symptoms. She met DSM-III-R criteria for major depressive episode with melancholia. Physical exam revealed a left-sided Horner's syndrome, and MRI scan of the brain revealed large bilateral frontal lobe masses that were neurologically silent. This case demonstrates that intracranial tumors can present as late onset depression without significant accompanying neurologic deficits.     

Infant with early onset bilateral facial and bulbar weakness: Successful treatment of riboflavin in multiple acyl-CoA dehydrogenase deficiency caused by biallelic nonsense FLAD1 variants

Multiple acyl-CoA dehydrogenase deficiency (MADD) is a heterogeneous group of inborn error of metabolic disease affecting the oxidation of fatty acids and amino acids, and choline metabolism. Genes involved in electrons transfer to the mitochondrial respiratory chain typically induce MADD. Recently, FLAD1, which encodes flavin adenine dinucleotide synthase, has also been reported as a cause of MADD. Here, we present a case of a 28-month girl with progressive weakness in facial and bulbar muscle. She has been suffering from feeding difficulty and recurrent respiratory distress. Lipid storage myopathy was evident from muscle biopsy. Furthermore, whole exome sequencing identified homozygous variant of c.745C > T (p.Arg249*) in FLAD1, confirming the diagnosis of FLAD1-related MADD. The patient showed improvements in her symptoms and exhibited catch-up growth following the supplementation of riboflavin. Lipid storage myopathy with FLAD1-related MADD is potentially treatable. Therefore, we should have high clinical suspicion, even though the diagnosis is challenging.     

MRI diagnosis of brainstem cavernous angiomas presenting as tumours.

We report experience with 11 patients misdiagnosed for years, on the basis of computed tomography (CT) and angiography, as harbouring brainstem tumours in whom magnetic resonance imaging (MRI) demonstrated cavernous angiomas. Seven had undergone external irradiation, 2 had a ventriculo-peritoneal shunt, 2 developed aseptic femur necrosis following corticosteroid treatment, 1 had undergone a biopsy with a pathological diagnosis of glioma. CT had depicted ill-defined, hyperdense, faintly enhancing lesions. Angiography was normal, or showed an avascular mass or subtle venous pooling. MRI delineated discrete lesions, typical of cavernous angiomas, with a mixed hyperintense, reticulated, central core surrounded by a hypointense rim. Six patients subsequently underwent stereotactic radiosurgery without changes in clinical status or lesion. Although hemorrhagic neoplasms may mimic the clinical course and MRI appearance of cavernous angiomas, MRI is useful in the diagnosis of brainstem cavernous angiomas and should be performed in patients with suspected brainstem tumours.     

McArdle's disease presenting with asymmetric, late-onset arm weakness

McArdle's disease or myophosphorylase deficiency is one of the most common muscle glycogenoses and typically presents in childhood or adolescence with exercise intolerance, myalgia, myoglobinuria, and cramps in exercising muscle. We describe an elderly man who developed asymmetric proximal arm weakness at age 73. He had no history of exercise-induced cramps, myalgias, or myoglobinuria. Creatine kinase levels were elevated, serum lactate did not rise on ischemic exercise testing, and muscle biopsy showed a vacuolar myopathy with absent myophosphorylase activity. This unusual case demonstrates that McArdle's disease may present with fixed, asymmetric proximal weakness at an advanced age and should be considered in this clinical setting, especially when a history of poor exercise tolerance can be elicited.