Anti-N-methyl-D-aspartate receptor encephalitis in seven children / 中华儿科杂志

<p><b>OBJECTIVE</b>To study the clinical and laboratory features and diagnosis of the patient with anti-N-methyl-D-aspartate receptor(NMDAR)encephalitis in children.</p><p><b>METHOD</b>The data of clinical feature, laboratory findings, and radiological manifestation were reviewed and analyzed.</p><p><b>RESULT</b>Of the 7 patients, 4 were female and 3 were male. The age of onset was from 6.6 to 15.5 years (average 9.5 years). The onset of 4 cases started with convulsion. Six cases had seizures which was difficult to control by antiepileptic drugs. All patients had psychiatric symptoms and speech disorder. Six cases had different levels of decreased consciousness and dyskinesias. 6 cases had autonomic nerve instability, and 7 cases developed sleep disorders. The results of MRI examination were normal in all patients. The EEG of most patients showed focal or diffuse slow waves. Six cases had oligoclonal bands. All cases were confirmed to have the disease by detection of anti-NMDA receptor antibodies. No tumor was detected in any of the patients. All patients received immunotherapy.</p><p><b>CONCLUSION</b>Anti-NMDAR encephalitis is a severe but treatable disorder that frequently affects children and adolescents. Pediatric patients had clinical manifestations similar to those of adult patients. But children have a lower incidence of tumors and hypoventilation also occurs less frequently in children. Most of children had a good prognosis.</p>

Clinical analysis of four patients with Schwartz-Jampel syndrome / 中华儿科杂志

<p><b>OBJECTIVE</b>To analyze the clinical manifestation, diagnosis and treatment of Schwartz-Jampel syndrome (SJS).</p><p><b>METHOD</b>The clinical data, including demographic, laboratory tests (creatase, creatine kinase, etc.) and electromyography of 4 children with SJS were analyzed.</p><p><b>RESULT</b>All the 4 patients were male. The age of onset was from 0.5 to 1.25 years (average 0.83 years). The onset of 4 patients was insidious, the age to see doctor was from 2.17 to 10 years (average 5.92 years), body height was less than the third percentile rank in the children of same age and gender, they presented with facial expression stiffness, microstomia, difficult in opening mouth, blepharophimosis, limbs stiffness and, so formed a characteristic phenotype. Investigations showed the creatase in serum increased, creatine kinase (CK): 229 - 1039 U/L (normal value < 200 U/L), Creatine Kinase MB (CK-MB): 30 - 45 U/L (normal value < 25 U/L), lactate dehydrogenase (LDH): 455 - 716 U/L (normal value < 240 U/L). General myotonia potential was found in electromyography, osteoarticular deformities in medical imaging, and muscle biopsy in 2 patients showed type I muscle fibers differed in size and were disproportionate. All the patients took oral vitamin B, and received rehabilitation training, 1 patient took carbamazepine for 1 month, blepharophimosis and limbs stiffness was improved.</p><p><b>CONCLUSION</b>SJS is a rare autosomal recessive inherited disease. Clinical manifestations of SJS are characteristic facies, skeletal abnormalities, generous myotonia and short stature. Carbamazepine is effective for treatment.</p>

Follow-up study on the clinical characteristics and treatment effect of the different types of Guillain-Barré syndrome in children / 中华儿科杂志

<p><b>OBJECTIVE</b>To study the clinical characteristics and effects of immunoglobulin treatment in children with the different types of Guillain-Barré syndrome (GBS).</p><p><b>METHOD</b>Data of 108 patients hospitalized for GBS were retrospectively analyzed; 75 cases in this group were given acute high dose of gamma globulin (IVIG) 400 mg/(kg·d) intravenously for 5 d. Clinical and electrophysiological data and information on treatment and recovery of the children were collected during the follow-up and were analyzed.</p><p><b>RESULT</b>According to the clinical and electrophysiologic findings, 32 patients manifested acute inflammatory demyelinating polyradiculoneuropathy (AIDP), 34 had acute motor axonal neuropathy (AMAN), 3 had acute motor and sensory axonal neuropathy (AMSAN), 4 were inexcitable, 2 were unclassified. The clinical progress of the AMAN was faster than the AIDP group. Except for sensory nerve involvement, there was no significant difference in the clinical feature and severity. The mean time of the muscle strength began to recover was (5.59±3.63) days in the AIDP group and (7.21±4.68) days in the AMAN group after IVIG treatment. The time of the AIDP group was shorter than the AMAN group, but the difference was not statistically significant (t=-1.5702, P>0.05). The mean time of the muscle strength increased one grade was (8.88±4.39) days in the AIDP group and (12.67±8.35) days in the AMAN group. The difference was statistically significant (t=-2.3689, P<0.05). No patients in this group died. Follow-up data showed that the complete recovery time was not significantly different (t=0.2041, P>0.05).</p><p><b>CONCLUSION</b>The clinical progress of the AMAN was faster than the AIDP group. Besides sensory nerve involvement, there was no significant difference in the clinical feature and severity. The AIDP group's clinical recovery was faster than AMAN's after the immunoglobulin treatment. The two groups were not significantly different in long-term prognosis.</p>

Clinical characteristics and diagnosis of acute pandysautonomia in childhood / 中华儿科杂志

<p><b>OBJECTIVE</b>To summarize the clinical characteristics of acute pandysautonomia in childhood, to gain better understanding of the diagnosis and differential diagnosis.</p><p><b>METHODS</b>The clinical data of 6 children with acute pandysautonomia were analyzed and followed-up. All the 6 patients had routine blood and cerebrospinal fluid (CSF), electrocardiography (ECG), electromyography (EMG), cranial magnetic resonance imaging (MRI) and autonomic nerve function tests (head upright tilt test, dermatography test, and thermal/sympathetic sweat response). Other laboratory examinations such as immunologic markers of CSF, electroencephalography (EEG), spinal cord MRI and somatosensory evoked potential (SEP) were also performed in some patients.</p><p><b>RESULTS</b>Of the 6 patients, 1 was male, and 5 were female. The age of onset was from 2.3 to 14.5 years (average 8.2 years). The initial symptoms were gastrointestinal dysfunction in 3 patients and somatic motor dysfunction as their initial symptoms, one had irritability in 1 case, pain in 1 and dysphagia in 1, respectively. Autonomic nerve signs and symptoms: (1) Skin and mucosa are rough and dry, there was no or little perspiration, alacrimia or little tear in all patients. (2) Vision problem appeared in 1 patient, blepharoptosis in 3 patients, pupillary abnormality existed in all patients. (3) Gastrointestinal symptoms were present in all patients. Vomiting and constipation were present in 4 patients, diarrhea and constipation were alternatively present in 1 patient, abdominal distention and abdominal pain were present in 2 patients. (4) Cardiovascular system manifestations included postural dizziness or syncope in 3 patients, tightness and palpitation in 2 patients. (5) Urinary dysfunction was present in 4 patients. In addition, mild to moderate somatic motor dysfunction was present in 5 patients, sensory dysfunction in 3 patients. Autonomic nerve function tests were abnormal in all patients. Laboratory findings included serum IgM antibody to herpes simplex virus and antistreptolysin "O" (ASO) test were positive respectively in 1 patient. The immunological markers in CSF were abnormal in 3 patients and the protein level in CSF was slightly elevated in 3 patients. Cranial MRI was slightly abnormal in 4 patients. ECG was slightly abnormal in all patients. EMG was abnormal in 5 patients. SEP was abnormal in 3 patients. Five patients received IVIG therapy. Five patients were followed-up. One patient died, one lost to follow up and one had slight improvement. Significant improvement was seen in 2 patients.</p><p><b>CONCLUSION</b>Acute pandysautonomia in children usually had non-specific symptoms and could affect multiple organs. Heterotropia, cardiovascular dysfunction and gastrointestinal dysfunction were commonly seen in these patients. In acute pandysautonomia patients, IVIG seemed to be effective and the prognosis was poor in severe cases.</p>

Clinical and laboratory features of the Menkes disease / 中华儿科杂志

<p><b>OBJECTIVE</b>To study the clinical and laboratory features of the patients with Menkes disease.</p><p><b>METHOD</b>Three infants were diagnosed as Menkes disease. Their clinical feature, laboratory findings, radiological manifestation and genes were reviewed.</p><p><b>RESULT</b>All the three cases were male infants. Their clinical manifestations began at the 3, 5 and 6 months after birth. They all had light complexion, sparse fuzzy woolly hair. The main clinical manifestation was severe mental retardation. The first and the third case also had focal clonus seizures. The second case had feeding difficulty after birth. Their hair showed pili torti and trichorrhexis nodosa microscopically. Their ceruloplasmin in plasma were 32.3 mg/L, 72.5 mg/L and 60.7 mg/L, which were significantly lower as compared with the normal values. Their neuroimaging findings were cortical atrophy, delayed myelination of the white matter and tortuosity of the intracranial vessels. The gene examination of the first and the second case showed deletion and nonsense mutation on exon 14 respectively.</p><p><b>CONCLUSION</b>Menkes disease is an X-linked recessive disorder characterized by a copper-transporting ATPase defect. The main clinical manifestation is progressive nerve damage. Patients with the disease have special face and hair abnormality, and have morphological changes of brain blood vessels and cerebral atrophy.</p>