Lysosomal storage disorders: A review of the musculoskeletal features

The lysosomal storage disorders are a collection of progressive, multisystem disorders that frequently present in childhood. Their timely diagnosis is paramount as they are becoming increasingly treatable. Musculoskeletal manifestations often occur early in the disease course, hence are useful as diagnostics clues. Non‐inflammatory joint stiffness or pain, carpal tunnel syndrome, trigger fingers, unexplained pain crises and short stature should all prompt consideration of a lysosomal storage disorder. Recurrent ENT infections, hepatosplenomegaly, recurrent hernias and visual/hearing impairment – especially when clustered together – are important extra‐skeletal features. As diagnostic and therapeutic options continue to evolve, children with lysosomal storage disorders and their families are facing more sophisticated options for screening and treatment. The aim of this article is to highlight the paediatric presentations of lysosomal storage disorders, with an emphasis on the musculoskeletal features.     

Recurrent abdominal pain: theories and pragmatics

Although recurrent abdominal pain is a common complaint occurring in approximately 15% of school-age children, 90% of these children do not appear to have disease process that explains the pain. On the other hand, serious and life-threatening pediatric illnesses can present with recurrent abdominal pain as their only symptoms. This article proposes a clinical approach designed to identify those children with active disease processes, and presents a review of the current models proposed to explain the other 90% of children with recurrent abdominal pain. The objective of this review is to help pediatricians to minimize the morbidity associated with and the trauma caused by the evaluation of this common symptom in childhood.     

Acute painful joints

Musculoskeletal pain affects up to 20% of children at any one time, by far the majority of whom have minor or benign disorders. Deciding which patients have significant pathology is key. We consider the presentation of joint pain in four clinical settings: a child who is unwell with fever; a child who is well with mechanical joint symptoms or following trauma; a child with acute joint pain as part of a chronic condition; and a child with hip specific pathologies. This approach can help to formulate a differential diagnosis, guide appropriate investigations and institute effective treatment.     

Approach to the child with chest pain

Children frequently present to a pediatric office or emergency department with the complaint of chest pain. Between 0.3% and 0.6% of visits to a pediatric emergency department are for chest pain. Unlike adult patients with chest pain, most studies have shown that children with chest pain rarely have serious organic pathology. Infrequently, a child with chest pain will present with significant distress and require immediate resuscitation. Most children with chest pain are not in extremis, and for many, the pain is not acute in nature.     

Back pain in children who present to the emergency department.

The purpose of this study was to identify the causes and epidemiology of back pain in children who present to the emergency department. All children who presented to an urban pediatric emergency department (ED) during a 1-year period with the chief complaint of back pain were examined and evaluated with a uniform questionnaire. This was completed at the time of the ED visit in 48%, and within 48 hours in 52%. During a 1-year period, 225 children with a complaint of back pain were evaluated. The mean age was 11.9 +/- 4 years and 60% were female. Onset was acute (< or = 2 days) in 59%, and chronic (> or = 4 weeks) in only 11.6%. Pain awakened children from sleep in 47%, and caused 52% to miss school or work. The most common diagnoses were direct trauma (25%), muscle strain (24%), sickle cell crises (13%), idiopathic (13%), urinary tract infection (5%), and viral syndrome (4%). Radiographs of the back were rarely helpful. About 5% required hospital admission; one half of these were attributed to sickle cell crises. We conclude that back pain is an uncommon reason for children to present to an emergency department. When present, pediatric back pain is most often musculoskeletal, associated with an acute infectious illness or a traumatic event. Although the etiology is rarely serious, back pain often affects the daily activities of symptomatic children.     

57例儿童重度臀肌挛缩的诊治分析

目的 探讨小儿重度臀肌挛缩的诊断依据以及治疗方法。方法 回顾性分析57例儿童重度臀肌挛缩的病理和临床特点以及手术方法上与常见型臀肌挛缩的区别。手术强调彻底松解所有影响髋关节活动的肌肉和组织。故不仅要常规切断挛缩的臀大肌，髂胫束与阔筋膜张肌。更关键的是一定要同时切断夹杂在臀中、臀小肌内的挛缩肌束以及挛缩增厚的髋关节囊后半部分，有些甚至需要切断挛缩的梨状肌。结果 57例114侧全部经手术治愈。术后少部分病例有下肢不等长，关节弹跳等并发症。但经1年—2年正确功能训练后，均恢复正常。本组病例无再手术者。结论 重度型儿童臀肌挛缩其临床症状、病理改变较常见型更严重、更广泛。手术彻底松解所有影响髋关节活动的挛缩组织，即能达到较好的效果。     

Effects of caudal block on cortisol and prolactin responses to postoperative pain in children.

We have performed a randomized controlled study in 60 children (ASA 1.8 month to 10 yrs) undergoing lower abdominal and genitourinary surgery, to assess the effects of caudal anaesthesia on plasma cortisol and prolactin concentrations during early postoperative period. After induction of anaesthesia by inhalation or intravenously, thirty children received a standardized general anaesthetic (control group) while the remaining children received caudal anaesthetics with 0.25% bupivacaine in addition to a similar general anaesthetic (caudal group). Blood samples for cortisol and prolactin were taken after induction and 1 hour after surgery. Postoperative analgesia was assessed by modified pain objective scale and side effects were noted. Children in the caudal group had significantly smaller plasma cortisol and prolactin concentrations at 1 hr postoperatively, compared with those in the control group. Plasma cortisol concentration after induction was higher than after one hour of surgery in the caudal group. These results were correlated with pain scores. No serious side effects were recorded. In conclusion, caudal anaesthesia attenuated the postoperative cortisol and prolactin responses to surgery and pain in children.     

Low Back Pain in Children and Adolescents: an Algorithmic Clinical Approach

Low back pain (LBP) is common among children and adolescents. In younger children particularly those under 3, LBP should be considered as an alarming sign for more serious underlying pathologies. However, similar to adults, non specific low back pain is the most common type of LBP among children and adolescents. In this article, a clinical algorithmic approach to LBP in children and adolescents is presented.     

Acute Chest Pain

Chest pain is a worrisome symptom that often causes parents to bring their child to emergency department(ED) for evaluation. In the majority of cases, the etiology of the chest pain is benign, but in one-fourth of the cases symptoms are distressing enough to cause children to miss school. The clinician’s primary goal in ED evaluation of chest pain is to identify serious causes and rule out organic pathology. The diagnostic evaluation includes a thorough history and physical examination. Younger children are more likely to have a cardiorespiratory source for their chest pain, whereas an adolescent is more likely to have a psychogenic cause. Children having an organic cause of chest pain are more likely to have acute pain, sleep disturbance due to pain and associated fever or abnormal examination findings, whereas those with non-organic chest pain are more likely to have pain for a longer duration. Chest radiograph is required in some, especially in patients with history of trauma . In children, myocardial ischemia is rare, thus routine ECG is not required on every patient. However, both pericarditis and myocarditis can present with chest pain and fever. Musculoskeletal chest pain, such as caused by costochondritis and trauma, is generally reproducible on palpation and is exaggerated by physical activity or breathing. Pneumonia with or without pleural effusion, usually presents with fever and tachypnea; chest pain may be presenting symptom sometimes. In asthmatic children bronchospasm and persistent coughing can lead to excess use of chest wall muscles and chest pain. Patients’ who report acute pain and subsequent respiratory distress should raise suspicion of a spontaneous pneumothorax or pneumomediastinum. ED management includes analgesics, specific treatment directed at underlying etiology and appropriate referral.     

The Living Conditions of Children with Shared Residence – the Swedish Example

Among children with separated parents, shared residence – i.e., joint physical custody where the child is sharing his or her time equally between two custodial parents’ homes – is increasing in many Western countries and is particularly common in Sweden. The overall level of living among children in Sweden is high; however, the potential structural differences between children in various post-separation family arrangements have not been sufficiently studied. Potential risks for children with shared residence relate to the daily hassles and stress when having two homes. This study aims at investigating the living conditions of children with shared residence compared with children living with two custodial parents in the same household and those living with one custodial parent, respectively. Swedish national survey data collected from children aged 10–18 years (n ≈ 5000) and their parents were used. The outcomes were grouped into: Economic and material conditions, Social relations with parents and peers, Health and health behaviors, Working conditions and safety in school and in the neighborhood, and Culture and leisure time activities. Results from a series of linear probability models showed that most outcomes were similar for children with shared residence and those living with two custodial parents in the same household, while several outcomes were worse for children living with one parent. However, few differences due to living arrangements were found regarding school conditions. This study highlights the inequalities in the living conditions of Swedish children, with those living with one parent having fewer resources compared with other children.     

Augenärztliche Prävention im 1. Lebensjahr

Prospective studies on the evolution of refraction during the first few months of human life are necessary for the early detection of amblyopia and strabismus. In our study, the medical examination of 1,264 neonates showed rapid emmetropisation of primary existing hyperopia – (mean 3.62 D at birth) – especially during the first 6 months of life. The rate of emmetropisation continuously decreased until the end of the present period of observation. However, we did not observe this normal course in all cases. A total of 47 children did not lose their primary hyperopia, and in another 11 cases the rate of hyperopia even increased. We prescribed glasses for those children in whom emmetropisation was insufficient between the third and sixth months of life. We only observed the development of esotropia in the group of children without emmetropisation who did not wear glasses. No child in the group which wore glasses continually developed any form of strabismus. Therefore, we recommend very early examination of the refractive condition of the eyes for all children (from birth until the third month of life). Checkups should follow – if no abnormal results are found – between the 12th and 15th month and at the age of 4 years. If there are any abnormal results, glasses should be prescribed very early. Our study will continue until the end of 2007 in order to estimate the success of early provision for amblyopia.     

Approach to joint pain in children

The child with joint pain is a common presenting complaint in the acute setting. It has a variety of causes from the benign to the life-threatening which can be difficult to tease apart. In this article, we give an overview of some of the more common and concerning causes. We also provide a structured approach to history, examination and investigation for the clinician faced with the undifferentiated atraumatic joint pain in children of different ages.     

Stiefkind in der Medizin: Schmerzen bei Kindern

While pain therapy for adult patients has been undergoing constant improvements for approximately three decades, there have been limited efforts to extend those initiatives to patients in childhood and adolescence. The lack of EBM studies and ethical considerations were the reasons for this situation. This refers in particular to the management of acute pain. In 2014 an extensive contribution in Der Schmerz pointed out how acute pain in children could be treated. Some of the most remarkable details are the revival of metamizol and the relatively low concerns about using opioids. Two applications are not recommended with children – intramuscular and subcutaneous administration. Other details are quite similar to the treatment standards used with adult patients, such as pain measurement, interdisciplinary training, management of analgesia, and exact documentation of course.     

Bone scintigraphy in the evaluation of children with obscure skeletal pain

A retrospective analysis of bone scans of 381 children with unexplained skeletal pain was made. Of these, findings are reported on 358 for whom there were sufficient clinical data. The bone scan results suggested trauma as the cause of pain in 43 patients, inflammatory disease in 73 patients, and neoplasia in ten patients. There was only one false-positive bone scan. Normal findings were obtained from 227 patients, in whom no significant skeletal disease was detected on follow-up, except for juvenile rheumatoid arthritis in 23 patients. Bone scintigraphy is, therefore, an important, noninvasive diagnostic test for evaluating children with obscure bone or joint pain. We recommend that this test be performed early in the evaluation of these children to arrive at the diagnosis expeditiously and with minimal patient discomfort and morbidity.     

Double blind randomised controlled trial of topical glyceryl trinitrate in anal fissure.

AIMS: To determine the effectiveness and safety of topical glyceryl trinitrate (GTN) in the management of acute anal fissure in children. METHODS: Individual children were randomised to receive GTN paste or placebo for six weeks in addition to oral senna and lactulose. Patients took laxatives alone for a further 10 weeks. Each week a research nurse telephoned families to assess pain scores and give advice. Main outcome measures were validated standardised pain scores and time to painless defaecation. RESULTS: Forty subjects were recruited from 46 eligible children; 31 children completed the trial (13 in the GTN group and 18 in the placebo group). No differences in the proportion of those achieving pain free defaecation with relation to time were seen between the two groups. Similarly, there were no significant differences in pain scores between the two groups over the 16 week study period. However, in both groups pain scores had decreased significantly. There were no differences in the incidence of rectal bleeding, faecal soiling, presence of visible fissure, skin tag, or faecal loading at outpatient review at the time of recruitment, or at 6 weeks and 16 weeks. No serious adverse effects were observed. CONCLUSIONS: This study suggests that 0.2% GTN paste is ineffective in the treatment of acute anal fissures in childhood. However the overall fissure healing rate is high (84%) with associated reduction in pain scores, suggesting that a nurse based treatment programme can achieve a high rate of fissure healing.     

Primary haemophilus influenzae pyomyositis in an infant: a case report

Promyositis is a term used to denote primary pyogenic infection of the skeletal muscle. Because striped muscle tissue is normally resistant to bacterial infection, pyomyositis is very rare. In tropical countries, pyomyositis accounts for about 4% of hospital surgical admission, but it is far less common in temperate climates. It is more common in adults and especially in men, but it can occur at any age. We would like to present an 8-month-old infant to make pediatricians aware of the possibility of pyomyositis in cases of a mass over muscle, or of children complaining of joint pain or muscle aches even in the infancy period.     

Lysosomal acid lipase deficiency in Brazilian children: a case series

ObjectiveTo describe the demographic, clinical, laboratory and molecular characteristics of patients with lysosomal acid lipase deficiency.MethodsA retrospective review of the medical records of children with the disease.ResultsSeven children with lysosomal acid lipase deficiency (5 male; 2 female); 6 were mixed race, and 1 was black. The mean ages at the first onset of symptoms and at diagnosis were 5.0 years (4 months to 9 years) and 6.9 years (3–10 years), respectively. Symptom manifestations at onset were: 3 patients had abdominal pain, one had bone/joint pain due to rickets, and 1 had chronic diarrhea and respiratory insufficiency due to interstitial pneumonitis. One was asymptomatic, and clinical suspicion arose due to hepatomegaly. Six patients had hepatomegaly, and none had splenomegaly. Two patients were siblings. Enzymatic assay and molecular analysis confirmed the diagnoses. Genetic analysis revealed a rare pathogenic variant (p.L89P) in three patients, described only once in medical literature and never described in Brazil. None of those patients were related to each other. Lysosomal acid lipase deficiency was previously described as an autosomal recessive disease, but three patients were heterozygous and undoubtedly had the disease (low enzyme activity, suggestive lab findings and clinical symptoms).ConclusionThis case series supports that lysosomal acid lipase deficiency can present with highly heterogeneous signs and symptoms among patients, but it should be considered in children presenting with gastrointestinal symptoms associated with dyslipidemia. We describe a rare variant in three non-related patients that may suggest a Brazilian genotype for lysosomal acid lipase deficiency.     

The painful hip: evaluation of criteria for clinical decision-making

Children with a painful hip present a diagnostic challenge since clinical differentiation between septic arthritis, transient synovitis and Perthes disease may be difficult. Septic arthritis, a potentially life-threatening and debilitating medical emergency, requires early recognition for successful treatment, while transient synovitis and Perthes disease may be managed conservatively. An “ideal” single test for discrimination between these conditions is currently not available. We assessed the value of clinical examination and simple laboratory tests together with radiography and hip ultrasound in differentiating septic arthritis from transient synovitis and Perthes disease by analyzing the records of 89 children treated at our institution for hip pain. Ultrasound, radiographs, laboratory, clinical, and follow-up data were available for all the children. Diagnoses were made according to established criteria. Transient synovitis was present in 64 patients, septic arthritis in 8 (of whom 2 had additional osteomyelitis), and Perthes disease in 4. All children with septic arthritis had hip effusion shown by ultrasound and at least two of the following criteria: fever, elevation of erythrocyte sedimentation rate (ESR) and of C-reactive protein (CRP). None of the children without effusion on ultrasound or who lacked two or all criteria had septic arthritis. Radiographs had no significant impact on the decision-making in primary evaluation of acute hip pain. Conclusion We conclude that investigation of painful hips in children, based on hip ultrasound, body temperature, ESR and CRP, may allow cases for hip joint aspiration to be selected efficiently and may reduce the number of radiographs and hospital admissions. Received: 11 May 1999 / Accepted: 2 June 1999     

Osteopontin and symmetric dimethylarginine plasma levels in solitary functioning kidney in children

Aim: The present study aimed to examine whether plasma osteopontin (pOPN) and symmetric dimethylarginine (pSDMA) are useful biomarkers of renal dysfunction in children with solitary functioning kidney (SFK). Methods: We measured circulating pOPN and pSDMA in 51 patients with SFK and no other urinary defects. Patients were subdivided into two groups: primary SFK (pSFK) – unilateral renal agenesis (URA), and secondary SFK (sSFK) – unilateral nephrectomy. The control group (C) contained 21 healthy children, with mean age 9.92 ± 4.85 years. Immunoenzymatic ELISA commercial kits were used to measure pOPN and pSDMA concentrations. Results: Plasma osteopontin and pSDMA levels in children with SFK were higher than those in healthy participants (p < 0.05). There was no difference in pOPN and pSDMA concentrations between patients with pSFK and those with sSFK (p > 0.05). Receiver operator characteristic analyses performed to define the diagnostic efficiency of serum creatinine, pOPN and pSDMA in identifying children with C_cr < 90 mL/min/1.73 m² among all examined children revealed no differences between all three AUCs (p > 0.05). Conclusion: Increased pOPN and pSDMA levels were observed in children with SFK. Both pOPN and pSDMA correlated with eGFR; however, the sensitivity and specificity of those markers were not better than those of creatinine.