Ipek Polat

Myelin Oligodendrocyte Glycoprotein Antibody Persistency in a Steroid-Dependent ADEM Case.

Myelin oligodendrocyte glycoprotein (MOG) is a candidate target antigen in demyelinating central nervous system diseases, including acute disseminated encephalomyelitis (ADEM), neuromyelitis optica, and multiple sclerosis. It may give prognostic information regarding monophasic or recurrent course of the disease. MOG antibodies have been shown to be positive in high titers during the first episode of ADEM with rapidly decreasing to undetectable limits after recovery. However, persistent MOG antibodies are considered as a predicting factor for multiple sclerosis, optic neuritis relapses, and incomplete recovery of ADEM. Here we report a unique case with persistent MOG antibodies presented with multiphasic ADEM-like attacks. A 6-year-old girl was consulted with encephalopathy, gait disturbance, and oculomotor nerve palsy. Periventricular white matter lesions were seen on cranial magnetic resonance imaging studies. ADEM was diagnosed and treated with steroid. During follow-up, she experienced repeated episodes after steroid therapy termination. We were able to search MOG antibody at the ninth attack. The positivity of this antibody remained. It was thought to be associated with steroid-dependent course, and azathioprine and intravenous human immunoglobulin treatment were added. Patients with persistent MOG antibodies may benefit from addition of immunosuppressant agents, which may decrease the number of attacks.

Importance of acrocyanosis in delayed walking

We present a four-year-old wth ethylmalonic encephalopathy who presented with delayed walking. She had bilateral hyperintense lesions in the basal ganglia. Molecular analysis revealed a homozygous c.3G>T mutation in the ETHE1 gene. She did not have typical findings of the disease including recurrent petechia, chronic diarrhea and acrocyanosis was very subtle and orthostatic. She benefited from riboflavine and Q10 treatments. We suggest that acrocyanosis should be questioned and examined in patients with motor delay.

Schwartz–Jampel syndrome with gastroduodenal bleeding

Schwartz–Jampel syndrome is a rare autosomal recessive disorder with joint contractures, generalized myotonia, skeletal anomalies, and facial dysmorphism. The patients with Schwartz–Jampel syndrome have muscle stiffness and electromyography reveals complex, repetitive discharges as myotonic discharges. It is unusual for a Schwartz-Jampel syndrome case to have recurrent gastrointestinal bleeding episodes. The stable endothelial barrier is provided by perlecan which is an important component of vascular structures. Thus, perlecan deficiency may cause recurrent gastroduodenal bleeding. Our report is unique with being the first reported Schwartz–Jampel syndrome case with gastrointestinal bleeding.

Chronic Spinal Epidural Hematoma

A 15-year-old boy presented with a 2-month history of progressive difficulty in walking, unsteady gait, and wrist drop. Neurologic examination demonstrated decreased motor skills prominent in upper distal extremities (grade III), wrist drop, thenar-hypothenar atrophy, increased deep tendon reflexes, positive Babinski sign, bilateral clonus, and positive Romberg sign. He had fallen down stairs while carrying a heavy load on his back 8 weeks before. He felt a pain in the cervical and thoracal region at the time of trauma; a radiograph showed no fracture in the cervical and thoracic spine. At admission, nerve conduction studies were normal but needle electromyography showed denervation in C7-T1 innervated muscles. The T1-weighted sagittal magnetic resonance images of the spine showed 7.0 12.0 2.5 cm hema-

Occipital cortex dysgenesis with white matter changes due to mutations in laminin a2

Yiş U, Dixit V, Işıkay S, Karakaya M, Baydan F, Diniz G, Polat İ, Hız-Kurul S, Çırak S. Occipital cortex dysgenesis with white matter changes due to mutations in Laminin a2. Turk J Pediatr 2017; 59: 338-341. Laminin α2 related congenital muscular dystrophy is one of the most common congenital muscular dystrophies of childhood with or without clinical evidence of central nervous system involvement. It may be associated with significant white matter abnormalities resembling leukodystrophies. In this study, we elaborated on two cases with laminin α2 related congenital muscular dystrophy who had occipital cortex dysgenesis in addition to characteristic white matter abnormalities. Although laminin α2 related congenital muscular dystrophy with white matter abnormalities is known, the association with occipital cortex dysplasia has been not well recognized by clinical colleagues.

A novel mutation in the mitochondrial DNA cytochrome b gene (MTCYB) in a patient with Prader Willi syndrome.

In recent years, it has been suggested that defects in energy metabolism may accompany Prader Willi syndrome. Mutations in the mitochondrial cytochrome b gene have been commonly associated isolated mitochondrial myopathy and exercise intolerance, rarely with multisystem disorders. The authors describe a novel mutation (mt. 15209T>C) in mitochondrial cytochrome b gene in a 2-year-old girl with Prader-Willi syndrome with a clinical history of lactic acidosis attacks, renal sodium loss, hepatopathy, progressive cerebral atrophy, and sudden death. The authors suggest that atypical clinical findings in patients with Prader-Willi syndrome should direct the physician to search for a mitochondrial disease.

Williams Syndrome with Infantile Spasms.

To the Editor : A 7-mo-old girl was admitted with 1 mo history of symmetric extensor type of jerks in clusters followed by stiffening just after waking up. After the start of sudden jerks, psychomotor development got arrested. She was born at 38 wk of gestation by spontaneous vaginal delivery with a birth weight of 2400 g. She was the first child of healthy nonconsanguineous parents. In the newborn period she was diagnosed with supravalvular aorta stenosis with mild pulmonary stenosis. Her head circumference was 43 cm (50–75p). On physical examination dysmorphic facial features including elfin face, puffy eyes, full cheeks, flat midface, epicanthal folds and long philtrumwas noted. Complete blood cell count, biochemical and metabolic tests were normal. Cranial magnetic resonance imaging showed normal findings except thin splenium of corpus callosum. Interictal sleep electroencephalography revealed hypsarrhythmia pattern. She was treated with adrenocorticotropic hormone. She was seizure free after the third dose. Control electroencephalography showed bilateral parietal and occipital epileptic discharges. Despite she was seizure free after the third dose of ACTH, due to the ongoing EEG abnormalities, levetiracetam treatment was continued. Fluorescent in situ hybridization study revealed deletion of 7q11.23 region. She was diagnosed with Williams syndrome. After the cessation of spasms, her psychomotor development also improved. Williams syndrome is a contiguous gene deletion syndrome resulting from the submicroscopic deletion on chromosome 7q11.23 [1]. It is characterized by stenosis of large vessels (supravalvular aorta stenosis with or without pulmonar stenosis), elfin face, dental abnormalities, growth retardation and hypercalcemia during infancy [1, 2]. The central nervous system features of Williams syndrome include motor and mental retardation with behavioral disorders [2–4]. Seizures, especially infantile spasms are not specific features of Williams syndrome. There are few cases of Williams syndrome with seizures including apnea which correlates with ictal activity on EEG and tonic clonic seizures in a patient with larger deletions towards to the telomere [3–5]. 7q11.23-21.11 region is distal to the specific deletion region (7q11.23) of Williams syndrome. This 7q11.23-21.11 region includes a part or whole of the MAGI2 (Membrane Associated Guanylate Kinase, WW And PDZ Domain Containing 2) gene which is found to be associated with infantile spasms in patients with Williams syndrome [1, 3]. There are also two cases with Williams syndrome and infantile spasms that only have microscopic interstitial deletion without deletion inMAGI2 gene [2, 6].We could not test whetherMAGI2 gene was involved in our case. In conclusion, cases with Williams syndrome should be carefully followed up for the development of infantile spasms which can deteriorate pre-existing neurologic conditions.