Halûk Yavuz

Sydenham's chorea: a clinical follow-up of 65 patients.

Sydenhams chorea, the neurological manifestation of rheumatic fever, is the most common acquired chorea of childhood. In this retrospective study, the authors aim to present the clinical and laboratory findings of 65 Sydenhams chorea patients, followed up in a clinic over less than 7 years. The mean age at the onset of the symptoms was 11.7 ± 2.6 years (range, 6-17 years). Of the patients, 63% were female and 37% were male (male/female: 1.7/1). Chorea was generalized in 78.5% of the patients, right hemichorea in 12.3%, and left hemichorea 9.2%. There was a history of rheumatic fever in 30.8% of the patients. Echocardiographic study showed cardiac valve involvement in 70.5% of 61 patients. Brain magnetic resonance imaging, which was performed on only 18 patients, was evaluated as normal in all. Electroencephalography was also performed on only 18 patients and showed abnormal waves in 50% of them. Pimozide was mostly the first choice of drug therapy. Nevertheless, drug therapy was not needed in 18.5% of the patients. The recovery period of the first attack of the chorea was 1 to 6 months in 51.7% of the patients. The recurrence rate was 37.9%. In conclusion, Sydenhams chorea is still an important health problem in Turkey with respect to its morbidity.

Intracranial hemorrhage due to vitamin K deficiency after the newborn period.

This study presents clinical and laboratory findings and outcome of infants with intracranial hemorrhage (ICH) due to vitamin K deficiency after the newborn period, and evaluates vitamin K prophylaxis. The hospital records of 19 infants with a diagnosis of ICH due to vitamin K deficiency after the newborn period, seen in our clinic in less than 4 years, were retrospectively evaluated. The mean age at onset of the symptoms was 49 ± 18 days. The most frequent presenting complaints were convulsion (58%), vomiting (47%), and irritability (47%). The most frequent examination findings were coma (74%), fontanel bulging (68%), and absence of pupil reaction (42%). The localizations of the ICHs were as follows: parenchymal (47%), subarachnoid (47%), subdural (42%), and intraventricular (26%). Four patients had used antibiotics and 1 patient had suffered diarrhea before the onset of the symptoms. One patient had a mild hepatic dysfunction that resolved spontaneously in a few weeks and its cause was not found. Mortality was observed in 6 (32%) patients. Ten patients were followed up for a mean period of 26.9 ± 22.6 months. The follow-up findings were developmental delay (40%), microcephaly (30%), epilepsy (30%), blindness (20%), strabismus (20%), spastic tetraparesis (10%), spastic hemiparesis (10%), growth retardation (10%), and hydrocephaly (10%). Three (30%) patients remained neurologically normal. Vitamin K deficiency leads to death and neurological defects. Vitamin K prophylaxis at birth is therefore a priority. In this series, hepatic dysfunction had been detected in only 1 patient. The authors speculate that additional vitamin K to breast-fed infants with liver problem, antibiotic use, diarrhea, etc. should be considered.

Henoch-Schönlein purpura-related intestinal perforation: a steroid complication?

hood disease with a good prognosis. Two-thirds of the patients with HSP have abdominal manifestations. The most common intestinal complaint is colicky abdominal pain, which is often associated with vomiting, followed by intestinal hemorrhage, hematemesis, melena and hematochesia. The influence of HSP on the gastrointestinal system sometimes leads to serious complications, such as intussusception, massive hemorrhage and intestinal perforation. Early corticosteroid treatment for these intestinal complications is recommended.1 In this report we describe two cases with HSP-related intestinal perforation developed after corticosteroid treatment.

Intestinal Involvement in Metachromatic Leukodystrophy

Metachromatic leukodystrophy is a lysosomal storage disease caused by the deficiency of the enzyme arylsulfatase A. If arylsulfatase A is deficient, sulfatide accumulates. Functionally, this accumulation results in progressive neurological deterioration. The reports about the extra nervous system manifestations of metachromatic leukodystrophy are related to the gallbladder involvement such as polyposis. Unexplained vomiting began in a 5½-year-old girl with late infantile metachromatic leukodystrophy. Endoscopy showed multiple polypoid masses in the pylor of the stomach and duodenum. Severe gastrointestinal bleedings occurred during nasogastric feeding. Intestinal intussusception developed later. To the authors’ knowledge, intestinal polypoid masses and obstruction with metachromatic leukodystrophy have not previously been reported. The persistent vomiting may be a symptom of intestinal obstruction due to intestinal polypoid masses with metachromatic leukodystrophy. There may be a trend for the development of polypoid masses in intestine as well as in the gallbladder in metachromatic leukodystrophy.

Vaginal clear cell adenocarcinoma in an infant.

An infant girl who previously had hematuria was presented because of discharge of material from her genital area. Vaginal clear cell adenocarcinoma was diagnosed. Gynecological cancers in infant girls may be disclosed with hematuria.

Unusual Manifestations of Pediatric Neuromyelitis Optica

Neuromyelitis optica is a rare, severe idiopathic disease that predominantly involves optic nerves and spinal cord. Main clinical features of neuromyelitis optica are visual loss, paraparesis or tetraparesis, sensory loss, and sphincter dysfunction. A 13-year-old girl with vision loss and behavioral change was admitted. Her behavioral changes concerned demanding everything, eating cacik (a kind of meal prepared by yogurt) continuously, calling everyone “father,” and self-throttling during the last 1 month, and blurred vision started 15 days ago. On cranial magnetic resonance imaging (MRI), multiple lesions were seen. The patient was admitted 40 days later with walking difficulty. There were lesions in the medulla and cervical spinal cord on MRI. Neuromyelitis optica was diagnosed. Vomiting was the beginning complaint in 2 of 5 hospitalizations later. We conclude that neuromyelitis optica may involve atypical symptoms such as behavioral change and vomiting. Atypical presentations may delay diagnosis. Vomiting may be a recurrence messenger.

Plasmapheresis as an adjunct treatment in severe botulism.

jerks were present but reduced. The results of a sensory examination were normal. He had a sudden, unexpected respiratory arrest on the evening of his admission. Despite the intubation, he was able to communicate by writing. The suspect food was positive for Clostridium botulinum toxin. The results of other laboratory examinations were normal. Botulinum antitoxin was given without adverse effect on the 4th day of admission. Since there was no improvement of the clinical findings, plasmapheresis was performed on the 6th and 12th days after admission. At the end of the procedure, his clinical symptoms (vital capacity and muscular strength) had improved remarkably.

Toxic epidermal necrolysis treated with N‐acetylcysteine

Adverse drug reactions are the major cause of morbidity and mortality worldwide. Cutaneous drug reaction is the most common type of adverse reaction. Toxic epidermal necrolysis (TEN) is a rare, life‐threatening mucocutaneous disease, usually attributable to drugs. There is no proven therapy for TEN. The mainstay of therapy is immediate withdrawal of the culprit drug, using disease‐modifying agents, and meticulous supportive care. Several disease‐modifying agents have been used such as steroid, i.v. human immunoglobulin (IVIg), plasmapheresis. A 10‐year‐old epileptic girl was admitted with lamotrigine‐induced TEN. She was unresponsive to steroid. Her condition deteriorated despite IVIg treatment. She was treated with N‐acetylcysteine (NAC). To our knowledge this is the first report of a child with TEN, a potentially lethal disorder, treated with NAC. NAC may be effective for children with TEN.

Vitamin B12 deficiency and seizures

‘Vitamin B12 deficiency and seizures’ SIR–I read with interest the article by Erol et al. which adds to the body of knowledge on the association between West syndrome and vitamin B12 deficiency (VBD). I would like to reflect further on the relationship between VBD and seizures. Previously, Roschitz et al. reported seven infants with VBD due to maternal vegan diet. One of them had focal seizures as the first symptom. Hypsarrhythmia was seen on his electroencephalogram (EEG) at the time of diagnosis. The child was described as having West syndrome, hemiparesis, and no active speech. In contrast, Erol et al.’s patient had achieved age-appropriate developmental milestones. However, von Schenk et al. and Graham et al. warned that neurological recovery might not be complete, although the response to treatment in the short term was encouraging. Reports about epileptic seizures in children with VBD are sparse. Generalized tonic–clonic and focal seizures have been described as VBD-related seizures. The seizures in these cases began before treatment with vitamin B12 and therapy resulted in prompt cessation of seizures. However, therapy resistant seizures may occur, although seizures occurring after vitamin B12 therapy are not often reported. Johnson and Roloff reported a child who began having myoclonic seizures 3 months after discharge. Additionally, two children continued to have poorly controlled seizures. Two of three children who had seizures before vitamin B12 administration went on to have long-term sequelae such as learning disability. All children with seizures following vitamin therapy also had learning disability and resistant seizures. The EEG of patients with VBD and seizures may show the various features including hypsarrhythmia. Lundgren and Blennow noted seizure activity at the fourth EEG in their patient with no current clinical symptoms, but who had previously had generalized tonic–clonic convulsions. The case reported by Korenke et al. had an interesting EEG course. Generalized slow activity was seen on the EEG of a female infant with VBD with generalized tonic–clonic seizures. Parenteral cobalamin stopped seizures within 24 hours. Although this infant had no further seizures, an EEG showed epileptic discharges at the fourth month of therapy. Further EEGs were normal. The EEG of the patient reported by Johnson and Roloff was consistent with a seizure disorder of multifocal cortical origin and diffuse cortical dysfunction. A repeat EEG 3 weeks after the initiation of therapy was normal. Approximately 3 months later, he began having myoclonic seizures, confirmed by EEG. In my opinion, nutritional VBD-related seizures may not be benign. If VBD is associated with an inborn error of cobalamin metabolism, the prognosis may be worse.

A proposal for the definition of Hirayama disease and monomelic amyotrophy.

I read the article titled ‘‘Hirayama Disease in Children From North America’’ with interest. The authors reported 6 patients in this article. Symptom onset was 3 months to 3 years before presentation. All had unilateral or bilateral asymmetric distal upper extremity weakness without objective sensory loss. Cervical magnetic resonance imaging (MRI) findings were abnormal in 3 patients. The findings were normal in the other patients. So I think that imaging in Hirayama disease should be reviewed. Two questions arise about imaging. Is imaging sufficient? If imaging is sufficient, do the cases with normal imaging really have Hirayama disease? Hirayama disease is a flexion myelopathy. The radiologic investigations of Hirayama disease proved compressive flattening of the lower cervical cord due to forward displacement of the cervical dural sac and spinal cord induced by neck flexion. According to the Hirayama hypothesis, neck flexion causes tightening of the dura and intramedullary microcirculatory compromise with resultant ischemic nerve cell damage. The imaging of the cervical cord reveals atrophy, flattening, displacement of posterior dura, and expansion of the posterior epidural space in a large number of cases examined. Asymmetric atrophy of the cervical cord was seen in most cases. Whatever the imaging methods used, forward displacement of the cervical cord was the most frequently observed abnormality. The dural displacement diminishes within several years of onset of the illness. Whether the cervical spine is fully flexed or not is the important point to be considered if we are to evaluate forward displacement of the posterior wall of the dural tube correctly. The patient may have difficulty in flexing the cervical spine forward properly because of restrictions in mobility within MRI equipment. This means that if the cervical spine can be flexed properly, the actual number of cases in which forward displacement of the posterior wall of the dural tube occur may be much larger. So flexion cervical MRI has been recommended for the diagnosis of Hirayama disease, as neck flexion angles effect diagnosis. Recently it was reported that 35 may be the best effective diagnostic flexion angle for MRI diagnosis of Hirayama disease. If imaging is sufficient, do the cases with normal imaging have Hirayama disease? Some patients with typical clinical features of Hirayama disease but without evidence of flexion myelopathy have been reported. Several authors also reported that on neck flexion, a forward movement and mild reduction in the anteroposterior diameter of the lower cervical cord was noted in affected individuals as well as in normal controls. It was shown that there were atopic diathesis, T helper 2 shift, and hyperimmunoglobulin E in some patients. Moreover, Ochi et al reported the successful treatment by plasma exchange of patients with both airway allergy and juvenile muscular atrophy of distal upper extremity without evidence of flexion myelopathy. These findings suggest that etiology of juvenile muscular atrophy of distal upper extremity may be heterogeneous. Hirayama disease has been given many other names: monomelic amyotrophy, juvenile muscular atrophy of distal upper extremity, juvenile asymmetric segmental spinal muscular atrophy, segmental muscular atrophy of distal upper extremity with juvenile onset, and benign focal amyotrophy. Most of these names refer to the same disease, and the diagnoses have been made on the basis of its clinical features. This situation also may lead to confusion. I propose a definition for Hirayama disease. Hirayama disease is a type of juvenile muscular atrophy of distal upper extremity due to radiologically proven and arrested flexion myelopathy without sensory disturbance or with minimal sensory disturbance. Other diseases (such as allergy, syringomyelia, spinal cord tumors, ossification of posterior longitudinal ligament, polio-like myelitis, inflammation, mechanical injury, cervical spondylotic amyotrophy, other cervical vertebral abnormalities, motor neuron disease, motor neuropathy, etc) must be excluded. It would be more appropriate to use the term monomelic amyotrophy for similar cases that do not meet the proposed definition of Hirayama disease and do not have the other above-mentioned disorders. The term of monomelic amyotrophy can also be used for involvement of the lower limb. Halûk Yavuz, MD Necmeddin Erbakan Üniversitesi, Meram Tip Fakültesi, Çocuk Bölümü, Konya, Turkey