Tai-Heng Chen

Posterior Reversible Encephalopathy Syndrome in Children Case Series and Systematic Review

To study presentations and outcome of posterior reversible encephalopathy syndrome in children, we retrospectively analyzed 14 patients admitted to our pediatric intensive care unit. We further assessed 94 additional pediatric cases from a systematic review. Our patients had a mean age of 11.6 years. Their precipitating factors were hypertension (100%), immunosuppressants (71%), antineoplastic agents (21%), and hemodialysis (14%). Initial neurologic manifestations included seizures (100%), mental change (100%), headache (79%), and visual disturbance (57%). After prompt diagnosis by magnetic resonance imaging (MRI) with intensive management, all patients had complete clinical recovery with subsequent radiologic resolution. Systemic literature review indicated that seizures (90%), hypertension (85%), and atypical neuroimaging findings (80%) are common presentations in childhood posterior reversible encephalopathy syndrome. We conclude that in children presenting with seizures and hypertension, a pediatric neurologist should consider posterior reversible encephalopathy syndrome within a comprehensive differential diagnosis of acute encephalopathy. Early recognition and intensive care are essential to ensure complete neurologic recovery in children with posterior reversible encephalopathy syndrome.

Combined Noninvasive Ventilation and Mechanical In-Exsufflator in the Treatment of Pediatric Acute Neuromuscular Respiratory Failure

The present study aims to evaluate the efficacy and complications of combined noninvasive ventilation (NIV) and assisted coughing by mechanical in‐exsufflator (MIE) for acute respiratory failure (ARF) in children with neuromuscular disease (NMD).

Aicardi syndrome in a 47, XXY male neonate with lissencephaly and holoprosencephaly

Aicardi syndrome (AS) is a rare neuro-ophthalmic disorder first described by Jean Aicardi in 1965 with a characteristic triad of corpus callosal agenesis (CCA), chorioretinal lacunae (CRL), and infantile spasms (IS). All known cases of AS have been sporadic and a responsible gene has not been identified. With 5 exceptional males, potential X-linked dominant genetic mutation characterizes AS occurring almost exclusively in girls. Most of male AS cases were still debatable in diagnosis either for their 46 XY karyotype or too atypical presentations to fit the formerly stricter diagnostic criteria. We report a 47, XXY male neonate presenting some undisputable, but otherwise some regarded as atypical features in AS. We compare his distinctively clinical pictures with previously reported male cases and find CRL is less pathognomonic and lissencephaly appears frequently among male AS. Because of insufficient genetic and biochemical markers for definite diagnosis at this moment, we suggest the experience of a relatively rare male case would help to shed light on the underlying genetic pathogenesis of AS.

Identification of bidirectional gene conversion between SMN1 and SMN2 by simultaneous analysis of SMN dosage and hybrid genes in a Chinese population

Spinal muscular atrophy (SMA) is a neurodegenerative disease characterized by programmed motoneuron death. The survival motor neuron 1 (SMN1) gene is an SMA-determining gene and SMN2 represents an SMA-modifying gene. Here, we applied capillary electrophoresis to quantify the SMN gene dosage in 163 normal individuals, 94 SMA patients and 138 of their parents. We further quantified exons 7 and 8 in SMN1 and SMN2. We found that the SMA patients carried the highest SMN2 copies, which was inversely correlated with disease severity among its three subtypes. Increased SMN1 was significantly associated with decreased SMN2 in the normal group. We also observed that parents of type I SMA patients had significantly fewer SMN2 copies than those of types II and III patients. The hybrid SMN genes were detected in two normal individuals and one patient and her mother. These results imply that increased SMN2 copies in SMA patient group might be derived from SMN1-to-SMN2 conversion, whereas the trend that normal individuals with higher SMN1 copies simultaneously carry fewer SMN2 copies suggested a reverse conversion, SMN2-to-SMN1. Together with the identification of hybrid SMN genes, our data provided additional evidence to support that SMN1 and SMN2 gene loci are interchangeable between population groups.

Reliability and Validity of Outcome Measures of In-Hospital and At-Home Visits in a Randomized, Double-Blind, Placebo-Controlled Trial for Spinal Muscular Atrophy

We used at-home assessments in a clinical trial to relieve the visit burden for participants. A total of 57 patients with type II or III spinal muscular atrophy were enrolled and 10 of them (7 type II and 3 type III) received at-home assessments. The primary end points were Gross Motor Function Measure, Manual Muscle Test, and serum biomarker. The secondary endpoints were Modified Hammersmith Functional Motor Scale and forced vital capacity. The correlation coefficients and analysis of covariance showed good reliability and validity of all outcome measures. Except for Gross Motor Function Measure and Modified Hammersmith Functional Motor Scale, there were no significant differences in measures between in-hospital and at-home groups (intersubject) or among 3 patients who received both at-home and in-hospital visits (intrasubject). We concluded that at-home assessments could provide sufficient reliability in a controlled trial. This modification could help design a successful clinical trial for spinal muscular atrophy.

Symmetric Atrophy of Bilateral Distal Upper Extremities and HyperIgEaemia in a Male Adolescent With Hirayama Disease

Hirayama disease is a rare neuromuscular disorder with peak age of onset at 15 to 17 years among young males. We report a male adolescent presenting with symmetric weakness and atrophy of bilateral upper extremities progressing for 2 years before stabilizing. Otherwise, he did not complain of any sensory disturbance. Electrophysiological findings revealed motor neuron damage at the C7-T1 spinal segments. Cervical magnetic resonance imaging revealed a high-signal mass of posterior dural sac at the C5-T5 vertebral level during neck flexion. Specifically, he had elevated serum total immunoglobulin E level, which had been postulated to be a precipitating factor in Hirayama disease. Early recognition and intervention of this unique neuromuscular disorder is important to avoid ongoing damage to motor neurons. Through this report, we would like to emphasize the crucial role of a pediatric neurologist in averting the progression of Hirayama disease at an early stage.

Posterior Reversible Encephalopathy Syndrome With Spinal Cord Involvement in Children Clinicoradiologic Findings and a Retrospective Comparison Between Adult and Pediatric Patients

We characterized a cohort of patients with posterior reversible encephalopathy syndrome with spinal cord involvement. We encountered 2 children and identified an additional 19 patients from the internet databases. Of the 21 patients analyzed, 8 were children. The mean peak systolic blood pressure in adults was significantly higher than in children (221.8 ± 14.3 vs 191.4 ± 31.3 mm Hg; P < .01). Regardless of age, the most common clinical symptom was headache (90%) and the least common clinical symptom was seizures (28%). Atypical neuroimaging was more common in children (63%) than in adults (8%). Abnormal cerebrospinal fluid results were frequently found in children (83%). All children recovered uneventfully, but 3 adults had sequelae. A broader clinicoradiologic spectrum makes the diagnosis of children more complex than in adults. Awareness of the atypical features with a meticulous management of hypertension is imperative to avoid unnecessary invasive workups and to achieve an uneventful recovery.

Spontaneous hemopneumothorax simulating acute abdominal affections

Spontaneous hemopneumothorax (SHP) is a rare potentially life‐threatening condition that occurs in predominantly young adolescents. The resultant massive hemorrhage leading to hypovolemic shock can be a surgical emergency. It constitutes 1–12% of all spontaneous pneumothoraces and presents with two cardinal features, chest pain and dyspnea. However, the pain of SHP may be confined to the abdomen secondary to the irritation of diaphragmatic pleura, which produces signs simulating an acute abdomen. SHP masquerading as an abdominal affection is apparently regarded as extremely rare. We present a case of a 16‐year‐old male with SHP presenting features simulating acute gallbladder disease. After prompt diagnosis with appropriate surgical intervention, he had an uneventful recovery. Our experience emphasizes the importance of careful and thorough chest examination for each child with atypical pictures for abdominal pain to exclude possible extra‐abdominal lesions, even rare as SHP. Pediatr Pulmonol. 2014; 49:E1–E4.

Increasing recognition of cases with male Aicardi syndrome.

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Massive cerebral air embolism in a preterm with fetal alcohol syndrome.

A mother with history of alcoholism during pregnancy delivered a baby boy weighing 1660 gms at 33th weeks of gestation. The baby had features of fetal alcoholic syndrome (FAS) in the form of facial dysmorphic features, bilateral optic atrophy, and sensorineural hearing loss. The baby was put on continuous positive airway pressure (CPAP) as he developed respiratory distress syndrome (RDS) with which he had improvement in his respiratory status. On the seventh day he developed focal clonic seizures with secondary generalization. Computerized tomography (CT) brain revealed disseminated air collection in both the cerebral hemispheres [Figure 1] suggestive of cerebral air embolism (CAE). Review of other radiological investigations did not reveal any evidence of systemic air embolism. Repeat brain CT done two days later showed extensive bihemispherical infarcts [Figure 2]. He was given supportive care and discharged on stabilization. At 3 months follow-up the child had profound developmental delay and intractable epilepsy.