Single gene, two diseases, and multiple clinical presentations: Biotin-thiamine-responsive basal ganglia disease.

AIM: To present seven new genetically confirmed cases of biotin-thiamin-responsive basal ganglia disease (BTBGD) with different clinical and brain magnetic resonance imaging (MRI) characteristics. MATERIAL AND METHODS: Genetic variants, clinical presentations, brain MRI findings, treatment response, and prognosis of seven selected patients with BTBGD, diagnosed with SLC19A3 mutations were described. RESULTS: Among seven patients diagnosed with BTBGD, two had early infantile form, four had classic childhood form, and one was asymptomatic. Four different homozygous variants were found in the SLC19A3. Two patients with early infantile form presented with encephalopathy, dystonia, and refractory seizure in the neonatal period and have different variants. Their MRI findings were similar and pathognomonic for the early infantile form. Three siblings had same variants: one presented seizure and encephalopathy at the age of 4 months, one presented seizure at 14 years, and another was asymptomatic at 20 years. Only one of them had normal MRI findings, and the others MRI findings were similar and suggestive of the classic form. Other two siblings; one of them presented with developmental delay, seizure, and dystonia at 18 months and the other presented with subacute encephalopathy and ataxia at 20 months. Their MRI findings were also similar and suggestive of the classic form. CONCLUSION: BTBGD may present with dissimilar clinical characteristics or remain asymptomatic for a long time period even in a family or patients with same variants. Brain MRI patterns may be important for the early diagnosis of BTBGD that would save children's lives.

Acute motor-sensory axonal neuropathy with hyperreflexia in Guillain-Barré syndrome.

Guillain-Barré syndrome is an acute inflammatory autoimmune polyradiculoneuritis. Progressive motor weakness and areflexia are essential for its diagnosis. Hyperreflexia has rarely been reported in the early healing period of Guillain-Barré syndrome following Campylobacter jejuni infection in patients with acute motor axonal neuropathy with antiganglioside antibody positivity. In this study, we report a 12-year-old girl presenting with complaints of inability to walk, numbness in hands and feet, and hyperactive deep tendon reflexes since the onset of the clinical picture, diagnosed with acute motor-sensory axonal neuropathy type of Guillain-Barré syndrome.

A case of Ehlers-Danlos syndrome type VIA with a novel PLOD1 gene mutation.

BACKGROUND: The kyphoscoliotic type of the Ehlers-Danlos syndrome is an autosomal recessive connective tissue disorder characterized by soft extensible skin, laxity of joints, severe muscle hypotonia at birth, and kyphoscoliosis. PATIENT: We describe a 3-year-old girl with the kyphoscoliotic type of the Ehlers-Danlos syndrome whose parents were cousins. She was born with breech presentation by vaginal delivery at term after a normal pregnancy. At birth she manifested hypotonia and congenital kyphosis. On the second postnatal day, subdural and intraparenchymal hemorrhages were detected by magnetic resonance imaging. During follow-up at 18 months of age, strabismus, umbilical hernia, kyphoscoliosis, joint laxity, bilateral hip dislocation, muscular hypotonia, and motor developmental delay. RESULTS: The cranial magnetic resonance imaging revealed periventricular leukomalacia and abnormal signal related to previous hemorrhage. Metabolic investigations and neuromuscular evaluation were normal, excluding other possible explanations of hypotonia. An analysis of urinary cross-links demonstrated an increase in the lysyl-pyridinoline to hydroxylysyl-pyridinoline ratio, suggesting the diagnosis of kyphoscoliotic type of the Ehlers-Danlos syndrome. Molecular analysis of the PLOD1 gene revealed that she had a novel homozygous p.Pro622Argfs*3 (c. 1863_1864dupCG) mutation in exon 17 that is expected to cause complete loss of the enzyme lysyl hydroxylase 1 and to cause kyphoscoliotic type of the Ehlers-Danlos syndrome. CONCLUSIONS: We describe a child with the kyphoscoliotic type of the Ehlers-Danlos syndrome with a novel mutation of the PLOD1 gene. Our observations suggest that vascular lesions in the neonatal period may be a rare additional clinical feature of kyphoscoliotic type of the Ehlers-Danlos syndrome.

Evaluation of maternal knowledge level about neonatal jaundice.

OBJECTIVE: To evaluate the knowledge of mothers on neonatal jaundice. METHODS: This study was conducted on 161 mothers who had given birth to healthy newborns at Izmir Aegean Gynecology and Obstetrics Hospital between January 2010 and April 2010. A questionnaire was used to assess the mothers' knowledge on neonatal jaundice. Knowledge was evaluated as "sufficient" or "insufficient" based on responses. Sufficiently informed mothers were compared with insufficiently informed group for the knowledge level about neonatal jaundice. RESULTS: The rate of insufficiently informed mothers was 53.6%. Logistic regression analysis showed that education level and having a previous offspring with jaundice were independent variables affecting the mothers' knowledge level. Low education level was found to increase the probability of the mothers' knowledge level to be insufficient by 2.1 folds (OR 2.1, 95% CI 1.3-3.4; p = 0.003). Being informed beforehand by a previous offspring with jaundice increased the probability of the mothers' knowledge to be sufficient by twofolds (OR 2, 95% CI 1.1-3.7; p = 0.03). CONCLUSION: It is found that the mothers' knowledge about neonatal jaundice is insufficient. Maternal education level and having a previous offspring with jaundice are major factors affecting the knowledge of the mothers on hyperbilirubinemia.