Ein-Yiao Shen

Solitary maxillary central incisor and congenital nasal pyriform aperture stenosis

Abstract Solitary maxillary central incisor (SMCI) and congenital nasal pyriform aperture stenosis (CNPAS) have been reported as an isolated morphogenic defect or associated with pituitary deficiency, holoprosencephaly, ocular coloboma, or chromosomal abnormalities. We report two cases and analyse 40 cases of SMCI and 24 cases of CNPAS, including 15 cases of combined SMCI and CNPAS, obtained from the literature. Of the patients with SMCI, 69% had short stature, 48% growth hormone deficiency or hypopituitarism, 23% pituitary absence or hypoplasia, and 17% had del (18p-) or r(18). Of the patients with CNPAS, 63% had SMCI, 75% were short, 43% had hypopituitarism or growth hormone deficiency, 36% had pituitary or CNS anomaly, and 33% had del (18p), r(18), or del (13q). Conclusions Solitary maxillary central incisor and congenital nasal pyriform aperture stenosis can be a diagnostic clue to pituitary hypofunction, CNS, ophthalmological and cytogenic anomalies.

Alice in Wonderland syndrome as a presenting symptom of EBV infection

Four Chinese patients (2 boys, 2 girls), ages 4-9 years, who had episodes of perception error of body schema and objects are reported. The metamorphopsia, which had been named Alice in Wonderland syndrome, is the major presentation. All of them were proved to have acute Epstein-Barr virus infection, as documented by positive heterophil antibody test and/or positive IgM antibody to Epstein-Barr virus capsid antigen. The duration of the perception disorder ranged from 1 week to 3 months. We believe that any young child presenting with Alice in Wonderland syndrome should undergo examination for Epstein-Barr virus infection; complete recovery from the disorder can be expected.

Sonographic finding of the bright thalamus.

Six of 83 asphyxiated neonates showed a diffuse increase of echodensity in bilateral thalami with or without other lesions in the basal ganglia on sonographic examination. The thalamic image still had a fairly high echogenecity compared with the surrounding brain parenchyma on follow up examination and was hence termed the bright thalamus. These six patients had a poor neurological outcome, including psychomotor retardation, spastic diplegia or quadriplegia, microcephaly, failure to thrive, seizures, and one death. The bright thalamus is not an occasional or an isolated sonographic finding of hypoxic-ischaemic encephalopathy, but it may serve as a landmark of severe hypoxic brain damage with adverse outcome.

Neurogenic diabetes insipidus in children with hypoxic encephalopathy: Six new cases and a review of the literature

Hypoxic encephalopathy is rarely mentioned as a cause of neurogenic diabetes insipidus (DI) in children. We here report six cases of DI which occurred after severe hypoxic/ischaemic brain damage and include a review of the literature on 28 paediatric cases of neurogenic DI due solely to severe hypoxia/ischaemia. Airway obstruction, haemorrhagic shock and sudden infant death syndrome are the three major causes of hypoxia/ischaemia. The ages (25/28) ranged from 0.03 to 18 years (mean 7.27 years, median 5 years). The intervals between the hypoxic insult and the onset of DI (23/28) ranged from 0.08 days (2 h) to 13 days (mean 4.07 days, median 3.5 days). Linear regression analysis revealed no significant correlation between the age and the interval. Nineteen cases (82.6%) developed DI within 6 days after the hypoxic/ischaemic insult. Only two neonates survived with developmental delay. The remaining 26 cases died.ConclusionNeurogenic DI can be caused by hypoxia/ischaemia and is an ominous sign of severe brain damage in children with hypoxic encephalopathy. It is important to recognize this potential sequel by regularly monitoring intake and output, plasma sodium level, and urine specific gravity.

Gastro-intestinal bleeding caused by leiomyoma of the small intestine in a child with neurofibromatosis.

Abstract Gastro-intestinal bleeding is an uncommon presentation in children with neurofibromatosis. Gastro-intestinal involvement caused by jejunal leiomyoma has only been described in adults. To the best of our knowledge, this is the first paediatric case of jejunal leiomyoma associated with neurofibromatosis. We present a 10-year-old girl with a 9-month history of anaemia and low gastro-intestinal bleeding. Abdominal sonography and small bowel series showed a submucosal mass in the proximal jejunum. On surgery, a submucosal tumour was excised and histological examination suggested a diagnosis of “smooth muscle tumour of undetermined malignant potential”. There were no recurrence of symptoms for 4 years after the operation. Conclusion Jejunal leiomyoma should be considered in a child with neurofibromatosis presenting with gastro-intestinal bleeding.

To early distinguish neonatal transient leukemoid proliferation from congenital leukemia by in vitro cell growth

SummaryTo differentiate neonatal transient leukemoid proliferation from congenital leukemia at an early stage is often difficult. Bone marrow culture is found to be helpful in this aspect. A normal in vitro growth pattern suggests transient leukemoid proliferation, while an abnormal growth pattern indicates congenital leukemia. A neonate who manifested with pictures mimicking acute myeloblastic leukemia (M1), had a karyotype of 46, XY/46, XY, i(21 q). However, the in vitro growth pattern was normal and so only supportive treatment was given. All the leukemoid manifestations disappeared several months later and he is now a healthy 2 year old boy remaining in complete remission. A second neonate who also displayed features of acute myeloblastic leukemia (M2), had a karyotype of 46, XY/47, XY, +21 and abnormal in vitro growth pattern. This neonate died at 18 days of age.

Serial sonographic findings of lenticulostriate vasculopathy

The vessels supplying basal ganglia and thalami are not usually detectable on the neurosonogram in the neonates. In recent studies, bright linear echogenesitis in these regions have been well decribed and were defined as lentriculostriate vasculopathy (LSV). These lesions suggested as a marker of a previous insult to the fetal or neonatal brain and the hemodynamics in the immature brain play an important role in its pathogenesis. In a period of 2 year and 5 months, we collected 39 cases of neonates and prematurities with LSV. These include 16 cases of premature babies, 16 cases of normal full-term neonates and 7 cases with perinatal insults. LSV was detected incidentally in most cases, distinctly different from the previous reports that LSV are linked with congenital anomaly, chromosomal anomaly, prematurity, perinatal insult or congenital infection, etc. There are early onset (< or = 7 days) LSV in 23 cases (59%) and late onset (>7 days) in 16 cases (41%). 16 cases (41%) had total remission, 7 cases (18%) had partial remission, and 16 cases (41%) remained persistantly. Rare reports remined of the long term effect of LSV including tics, attention deficit hyperactive disorder and developmental delay. An isolated LSV generally has a good long term prognosis and a grave neurologic deficit may be mainly due to its associated brain damage.

Tuberous sclerosis with visceral organ involvement.

This study is to determine the incidence of visceral organ involvement in tuberous sclerosis (TS). We reviewed 30 cases of TS diagnosed between 1987 to 1997. There were 17 males and 13 females, ages ranged from one day old to 17 years old. Among the 30 cases, 25 patients had seizures and skin manifestations; 24 had cerebral tubercles; 10 had heart involvement (9 rhabdomyoma, 1 dilated cardiomyopathy); 4 had kidney involvement (3 polycystic kidney disease, 1 renal hamartoma); and 3 had retinal astrocytic hamartoma. Based on our study, the most common visceral organs involved were the heart and kidney. Among the ten patients with cardiac rhabdomyoma, six were less than 1 year old (mean age 1.6 +/- 2.2 years old). One newborn presented with a cardiac mass diagnosed by prenatal sonography and another newborn, noted to have tachycardia after birth, underwent surgical intervention due to impending heart failure. Four patients had kidney abnormalities; three were less than 5 years old (mean age 5.2 +/- 5.2 years). During this 10 year period, there was no mortality seen among patients with visceral organ involvement. We suggest that clinicians treating patients with TS should not overlook the visceral organs, especially heart and kidney, which, if involved can have significant morbidity.

Excitatory and inhibitory amino acid levels in the cerebrospinal fluids of children with neurological disorders

Measurement of amino acid levels in the cerebrospinal fluid (CSF) of children with various neurological disorders was performed with high performance liquid chromatography (HPLC). Glutamate increased in patients with bacterial meningitis, aseptic meningitis and encephalitis. Aspartate increased in bacterial meningitis and seizure disorders. Glycine increased in both bacterial and aseptic meningitis. Taurine increased in bacterial meningitis and encephalitis. GABA, the main inhibitory amino acid, increased in encephalitis. Excitatory and inhibitory amino acids are richly distributed in brain tissue and are related to neuron activity. Changes in amino acid levels in the CSF may reflect the pathologic state and severity of brain insults, and may be useful in monitoring disease processes. Further study is necessary to determine whether CSF aminos acid levels have a role in practical clinical application.