Mehmet Okan

Involuntary movements during vitamin B12 treatment.

It has been known for many years that vitamin B12 deficiency can cause neurologic problems. One of these problems is involuntary movements that can appear both before and after the initiation of vitamin B12 treatment. Here, we report 3 infants who developed movement disorder during vitamin B12 administration. The movement disorder consisted of a combination of tremor and myoclonus affecting face, tongue, and limbs. Because of the severity of the symptoms, they all needed symptomatic treatment. In 2 of them, the involuntary movements resolved with clonazepam. The involuntary movements in the other patient were successfully treated with piracetam.

Lymphoma of the Cavernous Sinus Mimicking Tolosa-Hunt Syndrome in a Child

Some children with malignancies initially present with neurologic signs. Cavernous sinus syndrome is a rare manifestation of lymphomas, more commonly reported in adults. A patient presenting with third and fourth cranial nerve palsies was initially thought to manifest Tolosa-Hunt syndrome, but during follow-up a diagnosis of lymphoma without systemic involvement was established. This patient is the youngest, to our knowledge, to be diagnosed with primary cavernous sinus lymphoma. He remains in remission 5 years after chemotherapy. Malignancies (especially non-Hodgkins lymphoma) should be considered in young children with cavernous sinus syndrome, even without systemic involvement.

Long-Term Neurologic and Psychomotor Sequelae After Neonatal Tetanus

remains an important disease in Turkey.2,3 Mortality rates vary with different treatment regimens and can be significantly decreased with modem intensive care, vaccination programs for pregnant women, and improved living conditions. There are few reports concerning the outcome for survivors.~ This paper investigates long-term sequelae among children who received the same treatment for tetanus in the neonatal period.

Opitz trigonocephaly C syndrome associated with hearing loss

Opitz trigonocephaly C syndrome (OTCS), first described in 1969 by Opitz et al ., 1 is characterized by trigonocephaly, mental retardation, short neck, typical facial appearance, joint and limb anomalies, upslanting palpebral fissures, epicanthal folds, a broad depressed nasal bridge, small nose, abnormally low-set ears and visceral anomalies, such as renal and heart anomalies. 1–3 Herein, we present a patient with OTSC who also had hearing loss and status epilepticus.

Acute Central Nervous System Complications in Pediatric Acute Lymphoblastic Leukemia

BACKGROUND The outcome of childhood acute lymphoblastic leukemia has improved because of intensive chemotherapy and supportive care. The frequency of adverse events has also increased, but the data related to acute central nervous system complications during acute lymphoblastic leukemia treatment are sparse. The purpose of this study is to evaluate these complications and to determine their long term outcome. PATIENTS AND METHODS We retrospectively analyzed the hospital reports of 323 children with de novo acute lymphoblastic leukemia from a 13-year period for acute neurological complications. The central nervous system complications of leukemic involvement, peripheral neuropathy, and post-treatment late-onset encephalopathy, and neurocognitive defects were excluded. RESULTS Twenty-three of 323 children (7.1%) suffered from central nervous system complications during acute lymphoblastic leukemia treatment. The majority of these complications (n = 13/23; 56.5%) developed during the induction period. The complications included posterior reversible encephalopathy (n = 6), fungal abscess (n = 5), cerebrovascular lesions (n = 5), syndrome of inappropriate secretion of antidiuretic hormone (n = 4), and methotrexate encephalopathy (n = 3). Three of these 23 children (13%) died of central nervous system complications, one from an intracranial fungal abscess and the others from intracranial thrombosis. Seven of the survivors (n = 7/20; 35%) became epileptic and three of them had also developed mental and motor retardation. CONCLUSIONS Acute central neurological complications are varied and require an urgent approach for proper diagnosis and treatment. Collaboration among the hematologist, radiologist, neurologist, microbiologist, and neurosurgeon is essential to prevent fatal outcome and serious morbidity.

Chronic Inflammatory Demyelinating Polyneuropathy in Common Variable Immunodeficiency

Common variable immunodeficiency comprises a heterogeneous group of primary antibody deficiencies with complex clinical and immunologic phenotypes. Immune dysregulation leads to the generation of multiple autoantibodies against various antigenic targets in patients with common variable immunodeficiency. Chronic inflammatory demyelinating polyneuropathy is a heterogeneous disorder that indicates an autoimmune response against peripheral nerve myelin. We describe a 7-year-old girl with common variable immunodeficiency who developed chronic inflammatory polyneuropathy. A 5-day course of intravenous immunoglobulin (500 mg/kg/day) improved her neurologic disorder. Chronic inflammatory demyelinating polyneuropathy should be added to the broadening spectrum of neurologic complications in common variable immunodeficiency. Early detection and consequent treatment may reverse the neurologic sequelae.

Resolution of autoimmune oophoritis after thymectomy in a myasthenia gravis patient.

Myasthenia gravis (MG) is an autoimmune disorder characterized by autoantibodies against acetylcholine receptors. MG is generally an isolated disorder but may occur concomitantly with other autoimmune diseases. We describe an eighteen-year-old girl with MG who was admitted to our clinic with secondary amenorrhea and diagnosed as autoimmune oophoritis. Since her myasthenic symptoms did not resolve with anticholinesterase therapy, thymectomy was performed. After thymectomy, her menses have been regular without any hormonal replacement therapy. To our knowledge, this is the first report on a patient with autoimmune ovarian insufficiency and MG in whom premature ovarian insufficiency resolved after thymectomy, without hormonal therapy. Conflict of interest:None declared.

Celiac Disease Presenting with Biotinidase Deficiency and Paraplegia

To the Editor: A 5-y-old girl was admitted to the pediatric metabolism clinic with complaints of inability to walk, strabismus, and back pain. The past medical history was uneventful up to 5 y of age. There was no consanguinity between the parents. Upon detection of 3-hydroxyisovalerate in the urine organic acids, and hyperintensities in the T2-weighted image of the periaqueductal region and the cervical spinal cord posterior column in cranial and spinal magnetic resonance imaging (MRI) (Figs. 1a and 2a), biotinidase activity was measured and found to be very low (4 %), confirming the diagnosis of complete biotinidase deficiency (BD). Since the patient had complete BD, genetic analysis was not considered as necessary [1]. The patient’s clinical and laboratory data at baseline and after 6 and 15 mo of treatment are shown in Table 1. Glucose, ammonia, creatine kinase and blood gas analysis were normal. Lifelong biotin replacement at a dose of 10 mg/d was started. Upon inadequate weight gain and percentile loss in follow-up, the celiac serology was studied and found to be positive with an antitissue transglutaminase IgA of 227 EU/ml (positive ≥25 EU/ml). Duodenal biopsy revealed increased focal intraepithelial CD3-positive lymphocytes confirming the diagnosis of celiac disease. A gluten-free diet was a b