A total of 53 babies, 37 to 44 weeks' gestational age with a history of fetal distress in labour, and severe neurological abnormalities in the early newborn period, were followed up for between 2 and 5 years. Their progress was compared with an equal number of normal babies matched for gestational age, birthweight, sex, and social class, but without a history of fetal distress or delay in estab...

MCT8 is a cellular transporter of thyroid hormones important in their action and metabolization. We report a male patient with the novel inactivating mutation 630insG in the coding region in exon 1 of MCT8. He was characterized clinically by severe neurologic impairment (initially with global hypotonia, later evolving with generalized hypertonia), normal growth during infancy, reduced weight ga...

A 50-year-old woman presented with a 2-month history of Lhermitte sign, progressive gait and limb ataxia, weakness, and urinary hesitancy. Seven years ago, she had squamous cell tongue carcinoma that was treated with a partial resection and radiotherapy, which resulted in complete remission. A physical examination revealed pyramidal weakness, hypertonia, and hyperreflexia in the upper and lower...

Penetrating keratoplasty is one of the most common tissue grafts and organ transplantations. The aim of our study was to report our experience in corneal transplantation. A prospective study of 195 patients who underwent corneal transplantation over the period from August 2009 to August 2015. Mean follow-up was 21 months. The indications for transplantation were keratoconus 33,8%, trauma-relate...

Stiffperson syndrome (SPS) is manifested by increased tone of the trunk muscles that gradually spreads to the limbs. The mechanism underlying this muscle hypertonia involves derangement of the inhibitory action of gaminobutyric acid (GABA) at cortical and spinal levels with subsequent continuous motor unit activity. A cocontraction mechanism with a board-like abdomen and painful lumbar hyperlor...

In two patients, a man aged 54 years and a woman aged 49 years, stiff-person syndrome was diagnosed. This is a rare disorder of the central nervous system, with signs of an autoimmune pathogenesis. Patients present with pain and stiffness of the lower back, a complaint that is regularly seen in general practice. Moreover, the disease causes hypertonia and very painful cramps of the lower back a...

BACKGROUND Progressive encephalopathy with or without lipodystrophy is a rare autosomal recessive childhood-onset seipin-associated neurodegenerative syndrome, leading to developmental regression of motor and cognitive skills. In this study, we introduce a patient with developmental regression and autism. The causative mutation was found by exome sequencing. METHODS The proband showed a gener...

Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder caused by a deficit of oxidative decarboxylation of branched-chain aminoacids. It leads to a build-up of leucine, isoleucine, valine, and toxic metabolites in blood and urine, progressing to acute and chronic brain dysfunction. The first symptoms appear in early childhood and are characterized by sweet-smelling urine,...

Soleus H-reflex tests are used for elucidating pathophysiological mechanisms in motor control. The cumulative vibratory inhibition of the soleus H-reflex, the ratio of the reflex to direct muscle potential (H to M ratio) and the recovery curve of the soleus H-reflex were studied in 38 patients with varying signs of the upper motor neuron syndrome for a possible relation with clinical features. ...

A 5-month-old male infant presented with weak cry, decreased body movements, tightness of whole body since birth, and one episode of generalized seizure on day 4 of life. He was born at term by elective caesarian section performed for breech presentation. The child had failure to thrive, contractures at elbow and knee joints, hypertonia, microcephaly, small mouth, retrognathia, and camptodactyl...