MRI is an essential component in evaluation of spinal involvement in MPS VI, and scanning of the entire spine is recommended to rule out thoracic cord compression. Advances in knowledge: This study provides a detailed description of spinal MRI findings in MPS VI and underlines the role of MRI in management of cord compression.
Cognitive and behavioral impairment in mild hyperphenylalaninemia. Turk J Pediatr 2018; 60: 617-624.As elevated phenylalanine (Phe) is detrimental to brain functions, determining a safe upper limit of blood Phe is important for initiation of treatment plans and setting Phe targets in hyperphenlalaninemic patients. It is accepted that Phe levels below 360 μmol/L does not impair brain function and hence does not require treatment. Therefore, we aimed to compare cognitive functions and attention-related problems among healthy children and untreated patients with hyperphenylalaninemia (HPA). This study included 41 hyperphenylalaninemic patients ("all HPA group") aged 6-16 years with untreated blood Phe between 240 and 600 μmol/L and 29 healthy controls. "All HPA group" was further divided into 2 subgroups according to their lifetime median blood Phe levels as "Phe 360-600 μmol/L" and "Phe 240-360 μmol/L" groups. Wechsler Intelligence Scale for Children-IV (WISC-IV), Conners' Continuous Performance Test (CPT), Strength and Difficulties Questionnaire (SDQ) and Schedule for Affective Disorders and Schizophrenia for School-Age Children: Present and Lifetime Version (K-SADS-PL) were performed as a comprehensive neurocognitive, attention and behavioral assessment. The study illustrated that "all HPA" patients had significantly lower scores on all WISC-IV indexes compared to controls, except for Working Memory. Both "Phe 360-600 μmol/L" and "Phe 240-360 μmol/L" subgroups had lower Full Scale intelligence quotient (IQ) and Verbal Comprehension scores compared to controls. "All HPA" patients also had longer reaction times and more peer problems than controls, indicating attention deficits and behavioral problems. Since the results demonstrated that children with untreated Phe levels between 240-360 μmol/L are at higher risk for cognitive and attention-related problems, lowering the "safe" upper Phe level should be considered.
Hereditary dopamine transporter deficiency syndrome (DTDS) is a neurotransmitter disorder caused by a defect in the neuronal uptake of dopamine. To date, 20 patients are reported in the literature, and we present 2 additional patients with DTDS harboring novel homozygous gene mutations. Patient A is an 8-month-old male with neonatal-onset hypotonia, who developed orolingual dyskinetic movements and oculogyric crises after 4 months of age, with evolution to status dystonicus episodes. Patient B is a 4-year-old male who also had hypotonia since birth, with additional severe limb contractions and oculogyric crises after the age of 3 months, with a misdiagnosis of epileptic encephalopathy. Both patients had consanguineous parents and similar cerebrospinal fluid (CSF) neurotransmitter profiles with elevated homovanillic acid and increased the ratio of homovanillic acid to 5-hydroxyindoleacetic acid. Diagnostic delay is 4 months, and 3 years 9 months, respectively. Treatment response to levodopa is poor. Early infantile-onset progressive dystonia with oculogyric crises, hypotonia, developmental delay, and CSF neurotransmitter profile led to a diagnosis of DTDS in these two patients. Management of hyperkinetic movement disorder, status dystonicus, and feeding difficulties are challenging. Detailed phenotyping of individual patients along with treatment response should provide insight into dopamine homeostasis.
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