Anti-NMDAR encephalitis misdiagnosed as Hashimoto's encephalopathy.

Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is a well-defined autoimmune disorder. Hashimoto's encephalopathy (HE) is a still controversial entity, lacking definite diagnostic criteria. We described a 14-year-old-girl presenting with a clinical picture consistent with the diagnosis of anti-NMDAR encephalitis, confirmed by NMDAR antibody testing. Four years earlier, she had presented a similar episode of acute encephalopathy diagnosed as HE. Anti-NMDAR encephalitis and HE share similar clinical features so that the differential diagnosis can be difficult if specific antibodies are not tested. The correct diagnosis of anti-NMDAR encephalitis is crucial to plan the appropriate management and follow-up, namely in term of oncological screening, since it can be paraneoplastic in origin. We suggest to re-evaluate the clinical history of all subjects with previous HE diagnosis in order to evaluate the possible diagnosis of anti-NMDAR encephalitis and plan the appropriate management of these patients.

Secondary headache in children.

Headache is one of the most common health complaints in children and adolescents. The initial assessment of acute headache aims to recognize whether there is a secondary cause for headache. According to the literature, the secondary headaches due to non-life-threatening diseases are the most frequent ones in pediatrics. In particular, respiratory tract infections and minor head trauma represent the majority. In a small minority of patients, headache is secondary to serious life-threatening intracranial disorders. Meningitis is the most common cause of headache due to serious neurological condition. These patients do not constitute a diagnostic problem, as they usually have clear systemic and neurological signs of intracranial hypertension. Recent onset of headache attacks, occipital location of pain, patient's inability to describe headache characteristics seem frequently recur, together with neurological signs, in intracranial life-threatening conditions.

[Headache in a pediatric emergency department]. / La cefalea in pronto soccorso pediatrico.

INTRODUCTION: Headache, a very frequent symptom in pediatrics, can severely affect the child and his family's life quality, representing an important reason of access to a Pediatric Emergency Department. From a clinical point of view, it is useful to subdivide headaches in primary and secondary ones. As far as the primary ones are concerned, the common migraine without aura is recognised as the most frequent in the child, while the most recurrent among the second ones are due to infective processes, and they represent 57% of the patients admitted to ED for headache with acute onset. MATERIALS AND METHODS: We analyzed data collected from June 2000 to December 2006, at the Pediatric Emergency Department of Institute "G. Gaslini" Genoa, concerning the admissions of patients with headache, with particular attention to the necessity of coming up with a clinical and diagnostical path. RESULTS: During the study, there have been 228.255 admissions, 2.214 of which with a diagnosis of discharge from ED of headache (55% males, 45% females). After triage, 14,3% has been evaluated as white code, 74,3% as green one, 10,8% as yellow one and 0,6% as red code. Final outcome of these patients has been hospitalization for 38%, OBI for 8%, home or ambulatory control for 54%. CONCLUSIONS: The accesses to ED for headache are increasing. Better information of the family is needed, with coordination among territorial structures and clinic management in ED.

Metabolic and genetic risk factors for migraine in children.

Migraine can induce ischaemic stroke, and is considered an independent risk factor for stroke in the young. To date, the nature of the link between migraine and stroke is essentially unknown. Forty-five children were studied. Homocysteine levels (fasting and post methionine load), vitamin B12 and plasma folate levels, factor V Leiden, factor II G20210A, methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C mutations were examined. Compared with controls, patients with migraine had higher levels of post-methionine load homocysteine values (19.5 +/- 4.9 vs. 16.9 +/- 1.9; P = 0.025) and significantly lower folate levels (5.8 +/- 2.6 vs. 7.5 +/- 2.1; P = 0.002). We found a trend toward an increased risk of migraine in subjects carrying a homozygous mutant genotype for MTHFR C677T and MTHFR A1298C polymorphisms. Genetic prothrombotic conditions do not seem to be related to migraine in the young, whereas the biochemical differences between migrainous patients and controls are an appealing topic for further investigation.

Long-lasting myopathy as a major clinical feature of sarcoidosis in a child: case report with a 7-year follow-up.

Muscle involvement in sarcoidosis is rarely described as the predominant feature and muscular symptoms are seldom observed. In recent pediatric series, sarcoid myopathy was no longer considered a typical aspect of sarcoidosis. The authors report a case of sarcoidosis in a patient presenting predominant muscular symptoms since childhood, due to biopsy-proven muscle localization. A seven-year follow-up has demonstrated a slow improvement of symptoms with persistency of electromyography (EMG) and biochemical abnormalities. Mild and transient pulmonary involvement was demonstrated only after diagnosis. Clinical improvement associated with a decrease in serum muscular enzyme levels with no changes in EMG was observed after a six-month course of systemic corticosteroid therapy. In childhood, skeletal muscle symptoms may be the presenting feature of sarcoidosis.

Four year follow-up of a case of fucosidosis treated with unrelated donor bone marrow transplantation.

Fucosidosis is a rare autosomal recessive lysosomal disorder caused by alpha-fucosidase deficiency. We report a child with fucosidosis, second daughter of non-consanguineous parents, for whom biochemical diagnosis followed clinical evidence of the disease in her older sister. Based on previous experiences, the indication to transplant was considered. Since she lacked a matched sibling, an unrelated marrow donor was found. At pre-hematopoietic stem cell transplantation evaluation, first signs of neurological involvement were clinically detectable. MRI showed diffuse hypomyelination and auditory brainstem responses and somatic-sensorial evoked potentials were altered. Visual evoked potentials were normal, tortuosity in the retinal veins and peripapillary hemorrhages were detected. Bone marrow transplantation conditioning was with a regimen of busulphan, thiotepa and cyclophosphamide; in vivo Campath 1G, cyclosporin A and short course methotrexate were given to prevent graft-versus-host disease. The patient engrafted rapidly and her post-transplant course was complicated by moderate graft-versus-host disease, transient episodes of idiopathic thrombocytopenic purpura, repeated septic complications and recurrent episodes of Sweet's syndrome. Sequential short tandem repeat polymorphisms on peripheral blood and bone marrow cells documented the persistence of donor engraftment. Follow-up showed a progressive rise of enzymatic levels. Psychomotor development improved, as confirmed by evaluation of evoked potentials and by MRI scanning.

[Early autism and congenital muscular dystrophy: a clinical case]. / Autismo precoce e distrofia muscolare congenita: un caso clinico.

The authors describe the case of a twelve-year-old patient presenting early autism associated with congenital muscular dystrophy--subtype IV, according to the subclassification of Fukuyama (slight mental retardation, ability to walk, muscle pseudohypertrophy). To our knowledge, this association has never been reported. Several factors may have played a causative role in the development of an autistic disorder in the patient. The authors suggest the following as the most significant ones: disharmonious personality, weak emotional structure, inadequate primary relation with the mother, poor environmental influences, frustrations encountered because of the muscular disorder.

[Scoliosis and lateral gaze paralysis. Description of a case and review of the literature]. / Scoliosi e paralisi laterale dello sguardo. Descrizione di un caso e revisione della letteratura.

The paper reports the case of a girl affected by progressive scoliosis and paralysis of the horizontal gaze, and reviews previously published cases. This is a rare and little known neurological entity transmitted by recessive autosomal inheritance. To all effects, this appears to be the first report of an Italian case. A correct early diagnosis is of considerable importance in view of appropriate genetic counselling.