The arteriographic manifestations of Takayasu's arteritis in children

Eighteen cases of Takayasu's arteritis in children under 14 years of age are described, emphasising the arteriographic features and noting differences with other series. Renal artery stenosis resulting in renal hypertension was the most significant finding but widespread involvement of the aorta and its main branches with predominantly stenotic lesions was also found. Total aortography is mandatory in these cases as without it the correct diagnosis cannot be made.     

Angiographic features of 26 children with Takayasu's arteritis

BACKGROUND: Takayasu's arteritis (TA) is a chronic idiopathic inflammatory disease affecting primarily the aorta, its proximal branches and the pulmonary arteries. OBJECTIVES: To retrospectively review the angiograms of children with TA so as to describe the patterns of vascular involvement. PATIENTS AND METHODS: Twenty-six children with TA who differed from most other studies in that almost all of them presented with hypertension, reflecting the incidence of abdominal aortic and renal artery involvement. RESULTS: The most consistent finding was stenosis of the aorta. Marginal irregularity/undulation of the aorta was also a useful angiographic diagnostic feature in subtle disease. The incidence of aneurysms was high compared to other studies and both fusiform and saccular aneurysms were encountered. Percutaneous transluminal angioplasty (PTA) was successful in all eight patients in whom it was performed. MRI, CT angiography and US are discussed as less invasive imaging alternatives. TA is a significant cause of renovascular hypertension in children in South Africa where there is a high incidence of tuberculous infection. Knowledge of the angiographic features and pattern of aortic involvement is essential for diagnosis and initiation of early and appropriate treatment, including PTA.     

儿童多发性大动脉炎25例回顾性分析

目的探讨儿童多发性大动脉炎(TA)的临床特征,分析相关治疗方法和转归。方法回顾性分析25例儿童多发性大动脉炎患儿的临床表现、治疗过程及预后。结果患儿发病年龄为(10.8±3.0)岁,男女比为8∶17。TA临床分型中以Ⅲ型最多(56.0%),常以头痛、抽搐、乏力、蛋白尿等为首发症状,25例患儿均有高血压,其中19例有结核感染。22例患儿接受糖皮质激素和(或)环磷酰胺治疗后病情缓解,其中16例出现复发;3例患儿接受血管内介入治疗,效果良好,未再出现狭窄。结论儿童尤其是青春期以头痛、高血压为主要表现时需注意多发性大动脉炎可能。儿童多发性大动脉炎常由结核感染引起,因此早期发现与治疗结核感染可有效避免该病的发生。药物治疗儿童TA复发率较高,介入治疗能有效改善缺血症状。     

Takayasu's arteritis: the relationship with tuberculosis

A 12-year-old girl developed Takayasu's arteritis (pulseless disease) within a month of the appearance of tuberculous cervical adenitis. This unusual form of arteritis is common in Japan and Korea but has rarely been reported in individuals born in the United States. The etiology is unclear. The literature currently hypothesizes an autoimmune basis and treatment with steroids. Although a tuberculin sensitization pathogenesis has been suggested, a close temporal relationship with the onset of a tuberculous process has not previously been documented. The likelihood of uncovering tuberculin sensitivity or active tuberculosis in patients with Takayasu's arteritis is substantially higher than in the general population in all countries analyzed. The natural history of this arteritis is highly variable. The adolescent described in this paper has demonstrated complete symptomatic remission as well as return of pulses simultaneous with antituberculosis therapy.     

Ulcerative colitis associated with Takayasu's arteritis in a child

Takayasu's arteritis (TA) and ulcerative colitis (UC) are chronic inflammatory diseases of unknown aetiology, and their coexistence is very rare.
A 14-year-old Turkish girl presented with abdominal pain, nausea, vomiting and weight loss. UC was diagnosed based on physical examination and laboratory investigations and was confirmed by colonoscopic biopsies. TA developed approximately 1 year later, and was diagnosed with angiography performed for ongoing severe abdominal pain in spite of well-controlled UC.
Patients suffering from chronic inflammatory diseases such as UC must be investigated for other inflammatory diseases such as TA, especially if the response to immunosuppressant therapy is unsatisfactory.
Conclusion:  Findings from our patients suggest that paediatricians must remain alert to the possibility of abdominal vasculitis in patients with UC and unresolved abdominal pain in spite of clinical remission.     

儿童大动脉炎腹腔动脉狭窄经皮切割球囊扩张成形术二例

多发性大动脉炎又称Takayasu病,是侵犯主动脉及其主要分支动脉,引起动脉炎性狭窄的自身免疫性疾病.儿童少见,药物治疗可以控制病情发展,但对已产生狭窄的动脉效果不佳,需要介入、手术干预.     

Hyperventilation in the awake state: potentially treatable component of Rett syndrome.

Hyperventilation, which occurs in some patients with severe mental handicap, is a prominent feature in the histories of most girls with Rett syndrome but its mechanism and effects have not been established. Respiratory function was therefore studied in 18 patients with Rett syndrome and 23 healthy controls. Ten of the patients (56%), but none of the controls, hyperventilated only when awake, and began doing so after a period of normal breathing without hypoxaemia. After hyperventilation was established it was interspersed with prolonged periods of apnoea (over 19 seconds) accompanied by Valsalva manoeuvres. Hypoxaemia (less than 90%) occurred in 47% of these periods of apnoea and five (50%) of the patients had oxygen saturation values of under 50%. During hyperventilation severe hypocapnia developed in every patient, and recorded arterial pH measurements ranged from 7.47 to 7.60. A further four patients (22%) did not hyperventilate, but had clear histories of hyperventilation when younger. All had frequent apnoeic pauses accompanied by Valsalva manoeuvres. The remaining four girls (22%) neither hyperventilated nor gave a clear history of doing so. Three had occasional apnoeic pauses associated with the Valsalva manoeuvres. All but one of the 18 patients had increased quantities of periodic apnoea compared with the control subjects. The hypocapnic alkalaemia and hypoxaemia resulting from hyperventilation may contribute to the cerebral impairment in Rett syndrome. Since the hyperventilation is ''primary'', and not secondary to preceding apnoea, it is potentially treatable. Further studies will determine if treatment is practical and of benefit.     

Takayasu's arteritis as a differential diagnosis of systemic juvenile chronic arthritis.

After a series of throat infections an 8-year-old girl presented with fever and limb pain, initially diagnosed as juvenile chronic arthritis. Persistent symptoms led to further investigations when she was shown to have an arteritis affecting her aorta.     

卡维地洛治疗多发性大动脉炎导致的充血性心力衰竭一例

患儿男,2岁4个月,因间断发热10个月,关节肿胀8个月,咳嗽1个月于2003年1月7日入院.患儿于入院前10个月无明显诱因出现高热,抗生素治疗多日无效;2个月后出现双膝关节肿胀及疼痛,查体有淋巴结肿大和肝脾肿大,血常规WBC和PLT升高、Hb降低,C反应蛋白(CRP)升高,拟诊"幼年类风湿性关节炎(JIA)(全身型)",给予泼尼松、甲氨蝶呤、布洛芬等治疗后体温降至正常,双膝关节症状好转.心脏超声检查示"左心房左心室轻度扩大",未予注意.近1个月来咳嗽,时有夜间喘息,来我院就诊.查体:体温36.2℃,脉搏118次/min,呼吸24次/min,血压未测.     

Pyruvate dehydrogenase E2 deficiency: A potentially treatable cause of episodic dystonia

The association of progressive episodic dystonia and learning disability with distinctive neuroimaging findings may lead to consideration of atypical Pantothenate Kinase Associated Neurodegeneration (PKAN) and investigations directed towards that diagnosis. Recent reports indicate that deficiency of dihydrolipoamide acetyltransferase, the E2 component of the pyruvate dehydrogenase complex, may present similarly, and that this disorder should also be considered in the differential diagnosis. We describe two sisters with early onset episodic dystonia and pyruvate dehydrogenase deficiency caused by defects in the E2 subunit. Both have neuroimaging features similar to previously described patients and have mutations in the DLAT gene. As this condition is potentially treatable with a ketogenic diet, the possibility of this diagnosis should be considered in similar cases.     

Takayasu arteritis in children

Takayasu arteritis (TA) is a large vessel vasculitis that usually affects young female patients during the second and third decades of life, but has been reported in children as young as 24 months of age. Aim of this report was to describe four children (two girls) with TA, as well as summarizing main published studies. The mean age at presentation of our cases was 11 years (range 8–15). Three patients were Caucasians and one Asian. Arterial hypertension was the commonest mode of presentation followed by systemic symptoms. Other related symptoms were due to ischemia and consisted of abdomen, chest, and limb pain. An abdominal bruit was noted in only one patient. Inflammation markers were always abnormal. Angiography was performed in all cases; left subclavian artery and common carotid artery were more frequently involved. Renal artery stenosis was observed in two patients. One boy was diagnosed as having an associated immune deficiency (Wiskott-Aldrich syndrome). Treatment modalities included prednisone (n = 4), methotrexate (n = 3), and mycophenolate mofetil (MMF) (n = 1). Surgery was required in two patients. Follow-up ranged from 3 to 10 years since diagnosis. In three cases antihypertensive drugs and methotrexate were stopped, and prednisone was reduced to 7.5 mg/day.     

Gallbladder polyps in children: a rare condition

Although gallbladder polyps are well documented in adults, only three cases in children have been reported in the literature. We present two pediatric cases in which gallbladder polyps were detected by ultrasound, confirming this as the imaging method of choice in diagnosing gallbladder disease.     

Biliary dyskinesia: a potentially unrecognized cause of abdominal pain in children

Biliary dyskinesia is defined as symptomatic biliary colic without cholelithiasis, and is diagnosed during cholescintigraphy by assessing gallbladder emptying with cholecystokinin (CCK) stimulation. Unfortunately, gallbladder emptying is not routinely assessed during cholescintigraphy in pediatric patients. The purpose of this review is to assess the effectiveness of cholecystectomy in patients with chronic abdominal pain and delayed gallbladder emptying and to assess whether these findings correlate with the histologic evidence of chronic cholecystitis. We retrospectively reviewed the medical records of all patients (n=16) at our institution from October 1997 to August 2001 who underwent quantitative cholescintigraphy with CCK stimulation that demonstrated delayed gallbladder emptying (<35% at 60 min) and who subsequently underwent cholecystectomy. Laparoscopic cholecystectomy was performed in 16 patients with chronic abdominal pain. All 16 patients had delayed gallbladder emptying (mean ejection fraction: 15±8%, range: 3–32%). The mean age was 12±2 years (range: 8–17 years). Presenting symptoms included abdominal pain (86%), fatty food intolerance (27%), emesis (13%), and diarrhea (13%). Mean duration of abdominal pain before operation was 11±19 months (range: 2 weeks–6 years). One patients symptoms persisted postoperatively, but abdominal pain resolved in all other patients. Histologic evidence of chronic cholecystitis was demonstrated in 86% of surgical specimens. Five patients underwent concurrent appendectomy, and all had normal appendiceal histology. Our experience suggests that children with chronic abdominal pain and delayed gallbladder emptying on CCK-stimulated cholescintigraphy are likely to benefit from cholecystectomy and to have histologic evidence of chronic cholecystitis.     

Primary cerebral arteritis in a young girl: An unusual cause of acute recurrent neurological deterioration

BackgroundPrimary angiitis of the central nervous system (PACNS) is an idiopathic, usually recurrent vasculitis confined to the brain. PACNS has been reported rarely in children, although the disease is probably underdiagnosed.Clinical case: We report the clinical history of a 3-year-old girl who presented subacute neurological deterioration characterised by headache, speech regression, and altered level of consciousness. Brain MRI revealed severe inflammatory lesions involving both grey and white matters. All blood and cerebrospinal fluid (CSF) tests for inflammatory or infectious processes were negative. Over the next 10 years, the patient relapsed eight times. Brain biopsy confirmed lesions suggestive of cerebral vasculitis. Based on histopathological features and due to the absence of systemic vasculitis, the patient was considered to have PACNS. She developed partial epilepsy, and clinical stabilisation was finally achieved via continuous oral corticosteroids and immunosuppressive agents.ConclusionPACNS may be the cause of subacute and relapsing inflammatory encephalopathy in children after excluding other diagnoses, such as multiple sclerosis, sarcoidosis, recurrent acute disseminated encephalomyelitis (ADEM), and primary central nervous system lymphoma. Brain biopsy is necessary to confirm the diagnosis of PACNS and exclude diseases with similar symptoms. Neurological outcome remains poor.     

D-Lactic acidosis: a treatable encephalopathy in pediatric patients

A 20-month old infant, who had short bowel syndrome following extensive surgery for a mid gut volvulus, developed hyperchloremic acidosis, with a large anion gap after enteral feeding was instituted. The organic acidosis was at least partly due to an increased concentration of D-lactic acid. This patient, as did five other pediatric patients, presented with a typical encephalopathy syndrome. Early recognition of this syndrome and treatment with an intestinal antibiotic and discontinuation of enteral feeding enabled prompt correction of the hyperchloremic acidosis and a rapid clinical recovery.     

Primary arteritis of the right axillary and left pulmonary arteries or Takayasu's disease in an adolescent

The authors report a case of a primitive inflammatory arteriopathy involving the right axillary and left pulmonary arteries, or Takayasu's disease in a 16 years old adolescent. After recalling the criteria of definition and diagnosis of the disease, they stress the value of an early diagnosis during the first preocclusive phase of this exceptional disease, that may well begin at the paediatric age group.