Ocular lesions in incontinentia pigmenti

Incontinentia pigmenti is a component of the Bloch-Sulzberger syndrome, which consists also of several major anomalies involving the central nervous system, skeleton, teeth, and the eye. Important manifestations include seizures, mental retardation, microcephaly, deformities of the skull and vertebrae, cleft palate, dystrophy of the nails, and abnormal or missing teeth. Although usually listed as a disease with which congenital cataract is associated, the more important ocular findings are those of the posterior segment, resembling lesions that enter into the differential diagnosis of the white pupil. The skin disturbance is characteristic and occurs very early in life; it may disappear entirely, obscuring the diagnosis if the ocular lesions are discovered later. The Bloch-Sulzberger syndrome usually is inherited as an X-linked dominant with lethality for males. It is a rare but important entity to the pediatric ophthalmologist.     

Optic nerve head infiltration in acute leukemia in children: An indication for emergency optic nerve radiation therapy

Two pediatric patients with acute leukemia who developed optic nerve head leukemic infiltration are presented. In one patient both eyes were involved at diagnosis as well as her central nervous system. Despite systemic and intrathecal chemotherapy she lost her vision within a few weeks. Cranial irradiation at that point could not reverse this outcome. In the second patient optic nerve head infiltration was found a few months after diagnosis, treated promptly with cranial irradiation and her vision was saved. Her central nervous system (CNS) was not involved at any time. It is stressed that ocular complaints including eye pain or blurred vision in the pediatric patient with leukemia should be investigated without delay by an ophthalmologist. In the young child these complaints may be absent and change in the visual behavior should then alert the pediatric oncologist for possible ocular problems. If optic nerve head leukemic infiltration is diagnosed and promptly treated with emergency radiation, vision can be salvaged. © 1996 Wiley-Liss, Inc.     

Auge und systemische Erkrankungen im Kindesalter

Various systemic disorders in childhood lead to ocular changes. This review summarizes the ocular symptoms of the most important juvenile disorders. The therapy of typical ocular disorders, effecting the eye with systemic disorders, is presented. Furthermore ocular therapy is mentioned in detail if this varies from the therapy of the systemic disorder.     

Etiologic factors of acute aortic dissection in children and young adults

Current concepts in the pathophysiology and predisposing conditions of acute aortic dissection in children, adolescents, and young adults are presented. Timely diagnosis is required for this life-threatening condition. Most children and adolescents with aortic dissection have congenital cardiovascular anomalies. Certain heritable disorders involving connective tissue also predispose to this disorder. Newer associations include cocaine abuse and weight lifting. To facilitate early diagnosis, the salient physical findings of the known predisposing conditions are reviewed. Clinical presentation and diagnostic imaging of aortic dissection are briefly summarized. Physicians working in an acute care setting, particularly in the emergency room, should be aware of disorders predisposing to acute aortic dissection in the pediatric and young adult population. Practitioners conducting school or college preparticipation sports evaluations can make use of such information in their assessment of risk for sudden death.     

Disorders of the hair and scalp in children

A wide variety of disorders involving the scalp and hair exist that may be encountered in the pediatric and adolescent population. An approach to the differential diagnosis of many of these conditions can be considered once the patient is found to have either alopecia, scaling, or tumors of the scalp. Certainly other causes of scalp or hair disease exist but the more common disorders can be appropriately considered in this manner.     

小儿晕厥与代谢异常

晕厥是儿科常见急症,代谢异常所致的晕厥是儿童晕厥鉴别诊断的重要原因之一.导致儿童晕厥的代谢异常主要有低血糖、过度换气、电解质紊乱、低氧血症等,其中低血糖病因包括高胰岛素血症、垂体和肾上腺疾病、糖尿病、酮症性低血糖及糖和有机酸、氨基酸代谢缺陷病等.本文介绍导致儿童晕厥常见的代谢异常及病因、疾病诊断和治疗.     

Congenital toxoplasmosis: eye manifestations in infants and children

The eye manifestations of congenital toxoplasmosis were investigated in 38 infants and children. Diagnosis of the congenital ocular lesions was established clinically, using also X-ray, computed tomography and ultrasonography, and confirmed by two immunodiagnostic techniques. Infants and children were examined when one or more characteristic manifestations of ophthalmic disorders were present. Typical symptoms and signs can present at birth or appear later in life. The multiplicity of clinical manifestations is characteristic of the disease. The most common symptom was chorioretinitis (92%), associated in 71% of the cases with other ocular lesions, and the second most common symptom was microphthalmia and strabismus. The inflammatory process also involved the anterior segment of the eye: iridocyclitis, cataract, glaucoma. Other rare findings were hydrocephalus, calcification in the brain, paresis, epilepsy and diminished visual acuity. The study showed that transplacental transmission of Toxoplasma to the fetus can have severe clinical consequences and terminate in fatal ocular impairment.     

The child's eye in systemic diseases

This article briefly describes the ocular manifestations of pediatric systemic diseases and gives practical advice regarding the management of the ocular involvement by the primary health care provider.     

Severe Peters Plus syndrome‐like phenotype with anterior eye staphyloma and hypoplastic left heart syndrome: Proposal of a new syndrome

Peters Plus syndrome is a very rare autosomal recessive condition characterized by ocular defects (typically Peters anomaly) and other systemic major/minor anomalies. Mutations in the B3GALTL gene encoding β 1,3‐glucosyltransferase have been found in virtually all patients with typical Peters Plus syndrome. We report on a female patient with unusually severe manifestations of Peters Plus syndrome, including anterior eye staphyloma, cleft lip and palate, and hypoplastic left heart syndrome (HLHS). Analysis of the B3GALTL gene revealed no mutation in the patient. To our knowledge, HLHS has not previously been reported in Peters Plus syndrome so far, and anterior staphyloma, a most severe defect of the anterior eye chamber, is also apparently rare in the syndrome. Our patient might represent a new syndrome of severe Peters Plus syndrome‐like phenotype with anterior eye staphyloma and HLHS.     

Syndromes and systemic diseases with eye findings

Many systemic and congenital diseases include ocular manifestations. Some are primarily ocular in importance, while others have a multiple-organ spectrum. The specific entities are the more frequently encountered diseases in a hospital or pediatric office practice.     

Maldevelopment of neural crest cells in patients with typical uveal coloboma

PURPOSE: To clarify the pathogenesis of ocular and systemic anomalies associated with typical uveal coloboma. METHODS: The records of 72 patients with typical uveal coloboma (35 males and 37 females) treated at Nagoya City University Hospital during a 16-year period were reviewed. RESULTS: Typical uveal coloboma was bilateral in 33 patients and unilateral in 35 patients; 4 patients were unclassified because of severe contralateral microphthalmos. Uveal coloboma was an isolated defect in 23 (37%) patients. Other ocular anomalies were present in 19 (31%) patients, systemic anomalies were found in 7 (11%) patients, and both other ocular and systemic anomalies were noted in 13 patients (21%). The associated ocular anomalies included microphthalmos in 28 eyes of 23 patients, persistent pupillary membrane in 28 eyes of 18 patients, and posterior embryotoxon in 20 eyes of 15 patients. The accompanying systemic anomalies included ear anomalies, retarded growth, and retarded development in 18 patients; heart anomalies in 13 patients; genital hypoplasia in 12 patients; and congenital facial palsy in 10 patients. The collection of malformations known as the CHARGE association was diagnosed in 14 (19%) patients. CONCLUSION: Abnormal development of neural crest cells appeared to be responsible for the majority of associated ocular and systemic anomalies in patients in the present series, suggesting that typical uveal coloboma may be related to maldevelopment of the neural crest cells. The present findings indicated that ophthalmologists should be aware of the possible association of typical uveal coloboma with systemic anomalies.     

Intestinal obstruction in neonatal/pediatric surgery

Intestinal obstruction in the newborn infant and older child may be due to a variety of conditions, including atresia and stenosis, annular pancreas, malrotation, duplication cyst, meconium ileus, meconium plug syndrome and neonatal small left colon syndrome, Hirschsprung's disease, neoplasia, trauma, and other rarer causes. The mode of presentation can be acute or more chronic with systemic upset due to shock. Neonates, more so than older children, with unrecognized intestinal obstruction deteriorate rapidly, show an increase of associated morbidity and mortality and appropriate surgical treatment becomes more hazardous. Early diagnosis depends largely on the prompt detection of obstructive manifestations by the clinician and the subsequent accurate interpretation of radiographic findings and other investigations, leading to definitive treatment, which should always be preceded by appropriate resuscitation/preparation of the infant/child. Management of intestinal obstruction will almost always be surgical, apart from some notable exceptions and all are discussed in more detail. With the advent of pediatric and neonatal intensive care and multidisciplinary care, the morbidity and mortality of cases of intestinal obstruction reported in current series is generally extremely low and mainly determined by the coexistence of other major congenital anomalies (eg, cardiac), delays in diagnosis and treatment or coexisting medical conditions. Newer treatments and future developments may reduce the residual mortality in such cases as ultrashort-bowel syndrome.     

Drug-induced Stevens-Johnson syndrome and toxic epidermal necrolysis in children: 20 years study in a tertiary care hospital

Background:Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are severe life-threatening skin conditions.The most common cause of these manifestations is medications.Beside discontinued of the culprit drug,systemic corticosteroids were used as a primary treatment option among pediatric population.This study aimed to explore causative drugs (drug group/ latent period),treaments,complications,and treatment outcome (morbidity,mortality,length of hospital stay) of SJS and TEN in children.Methods:A retrospective chart was reviewed during the period of 1992 to 2012 at Srinagarind Hospital,Faculty of Medicine,Khon Kaen University,Thailand.SJS and TEN were clinically diagnosed and confirmed by pediatric dermatologists.Other possible causes other than drug-induced SJS and TEN were excluded.Results:A total of 30 patients was recorded,including 24 (80％) SJS patients and 6 (20％) TEN patients.The mean age was 6.9 years (SD 4.4).Male to female ratio was 1.5:1.Antiepileptic drug group was the most common causative drug (n=18,60％),followed by antibiotic drug group (n=8,26.6％),and others (n=4,13.3％) which included nonsteroidal antiinflammtory drugs (NSAIDs) and chemotherapy drugs.Systemic corticosteroids were used in 29 patients (96.6％).Intravenous immunoglobulin was used in one TEN patient (3.3％).There was a medium correlation between time to treatment (systemic corticosteroids) and the length of hospital stay (Spearman correlation coefficient=0.63,P=0.005).Two TEN patients (6.6％) died.Conclusions:Carbamazepine was the most common causative drug of SJS and TEN in our study.The severity of skin detachment is not correlated to severity of ocular findings.However,the persistent of ocular complications up to one year is suggested for promptly appropriate ocular treatment in all SJS and TEN patients.Our data suggested that early administration of systemic corticosteroid may reduce the length of hospital stay and should be considered for the treatment of pediatric drug-induced SJS and TEN.     

ABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma Elasticum

Pseudoxanthoma elasticum (PXE) is a rare genetic disorder characterized by fragmented and mineralized elastic fibers in the mid-dermis of the skin, eye, digestive tract and cardiovascular system. Clinical presentation includes typical skin lesions, ocular angioid streaks, and multisystem vasculopathy. The age of onset varies considerably from infancy to old age, but the diagnosis is usually made in young adults due to frequent absence of pathognomonic skin and ocular manifestations in early childhood. We report two children with PXE presenting with isolated multisystem vasculopathy and early-onset stroke. In the first patient, diagnosis was delayed until typical dermatologic alterations appeared; in the second patient, next-generation sequencing (NGS) study led to early diagnosis and specific follow-up, underlying the crucial role in idiopathic pediatric stroke of early genetic testing using NGS-based panels.     

Eye emergencies: acute management in the pediatric ambulatory care setting.

Pediatric emergency department visits commonly relate to eye problems. Over 70,000 children under the age of 15 years are treated annually for eye injuries. Ocular examination is also often performed in the ambulatory care setting when the physician is evaluating systemic problems, such as head trauma, to look for abnormalities such as papilledema. For these reasons, it is essential that the acute care physician becomes familiar with the initial evaluation and management of ocular disorders. Unfortunately, this evaluation may be hampered by inadequate instrumentation, an uncooperative patient, or a fear of causing further damage to the eye. However, primary care physicians can perform a wide range of diagnostic and therapeutic interventions with a minimum of technology and a modicum of patience and understanding.     

Nail disorders as signs of pediatric systemic disease

Herein, we describe some of the more common changes in the nail unit that can be seen in systemic diseases in children. Changes that can be seen are not limited to those discussed in the following pages. The presence of changes on multiple nails is suggestive of a systemic cause in an ill child. However, multiple nails can also be affected in primary inflammatory disorders and infections of the nail unit. When evaluating a pediatric patient with a nail disorder, it is important to perform a complete physical examination of the skin and oral mucosa, as other clues to the diagnosis of the nail problem may be found. A comprehensive family history is also important to uncover possible syndromic associations with nail disease or diseases that can manifest with nail changes.     

The emerging role of endoscopic ultrasound for pancreaticobiliary diseases in the pediatric population

Background:Endoscopic ultrasound (EUS) is a useful diagnostic and therapeutic tool in the pediatric population.Given the high accuracy and sensitivity of EUS,it is particularly effective in evaluating pancreaticobiliary disease.Published literature in the use of pediatric EUS is limited.Therefore we aimed to review the current literature for EUS indications,safety,and effectiveness for the pediatric population.Data sources:English language articles on the use of pediatric endoscopic ultrasound in evaluating pancreaticobiliary diseases were retrieved from PubMed/MEDLINE.Results:We analyzed various retrospective studies and case series publications.Data were extrapolated for pediatric patients with pancreaticobiliary diseases.Conclusions:EUS offers superior imaging,.It is comparible to magnetic resonance imaging and/or pancreatic-protocol computed tomography.In the current literature,there are a variety of pancreaticobiliary conditions where EUS was utilized to make a diagnosis.These include recurrent pancreatitis,congenital anomalies,microlithiasis,pancreatic pseudocysts,and pancreatic mass lesions.EUS was shown to be a safe and cost-effective modality with both diagnostic and therapeutic capabilities in the pediatric population.EUS is now increasingly being recognized as a standard of care when evaluating pancreaticobiliary conditions in children.     

Optic neuropathies in inherited metabolic disorders

Optic neuropathy is a common cause of childhood visual defects and early diagnosis is important for counseling, management and treatment of the underlying conditions. In most cases, careful examination, family history and neuroimaging are sufficient to identify the underlying cause. However, in unexplained cases, in cases where more than one individual in a family is affected and in cases where optic neuropathy is accompanied by other systemic signs and symptoms, a metabolic disorder should be considered. Metabolic disorders generally show a broad range of multisystem clinical symptoms, including eye defects. Here we review the substantial group of metabolic disorders that include optic neuropathies which may aid ophthalmologist, geneticist, neurologist, endocrinologist and other involved specialists in the diagnosis process.     

Pediatric electromyography

Conclusion This review has pointed out the morphologic differences in the pediatric population and the special subset of disorders of this group that are important for EMG studies and diagnosis of muscle disorders in this population. The size of the patient coupled with the process of myelination means that normative values must be available for each age group. The disorders discussed are generally encountered first in the pediatric population. The electromyographer who sees pediatric cases, must be aware of these disorders. The most commonly observed disorders have been described briefly and the most important signs have been presented differentiating the various pediatric neuromuscular disorders.     

Incomplete monosymptomatic leptomeningeal angiomatosis

Phakomatoses or neurocutaneous syndromes are an important cause of seizures in the pediatric age group. The Sturge-Weber syndrome may affect the eye, skin and brain at different times. The skin lesions need not always manifest. We report a case of isolated affection of the central nervous system in a case of Sturge-Weber syndrome in the absence of ocular or cutaneous manifestations. Our case qualifies to be called incomplete monosymptomatic leptomeningeal angiomatosis.