Systemic hypertension followed by insidious stroke in a 12-year-old boy with childhood neurofibromatosis type 1 presenting with renal and cerebral artery vasculopathy.

Lee ML, Chang TM, Yang RC, Yang AD, Chen M. Systemic hypertension followed by insidious stroke in a 12-year-old boy with childhood neurofibromatosis type 1 presenting with renal and cerebral artery vasculopathy. Turk J Pediatr 2019; 61: 629-634. Neurofibromatosis type 1 (NF1)-associated vasculopathy is usually diagnosed decades after the clinical diagnosis of NF1. Childhood NF1-associated renal artery vasculopathy or moyamoya-like brain vasculopathy could be clinically silent for a long time. We report a 12-year-old boy who had systemic hypertension found incidentally at a routine check-up. Physical examination showed caféau- lait spots and strong radial pulses. Abdominal computerized tomography angiography showed severe right ostial renal artery stenosis. Genomic study showed a heterozygous mutation c.5902C > T (p.R1968*) and two heterozygous single nucleotide polymorphisms (NCBI: SNP rs18011052 and rs2905876) of NF1 gene. After endovascular revascularization for renovascular hypertension caused by renal artery stenosis, including percutaneous transluminal renal angioplasty and stent implantation, blood pressure dropped effectively from 205/143 mmHg to 130/90 mmHg. Supine renin level dropped from 87.2 pg/ mL to 47.9 pg/mL. Unfortunately, right hemiplegia, transient visual loss with blind spots (scotomas), and clumsiness of extremities emerged insidiously 3.5 months later. Brain magnetic resonance imaging and magnetic resonance angiography showed ischemic infarction involving the watershed area of the anterior and middle cerebral arteries, indicating presence of moyamoya-like brain vasculopathy. A dilemma is that a significant decrease of blood pressure after endovascular revascularization for renal artery stenosis may have potentially unmask the moyamoya-like brain vasculopathy in this patient. Vasculopathy could be heralding childhood NF1 in the young patients without full-fledged clinical features. Endovascular revascularization for renal artery stenosis could be a double-edge sword in childhood NF1 presenting with concomitant renal and cerebral artery vasculopathy.

Revascularization of Concurrent Renal and Cerebral Artery Stenosis in a 14-Year-Old Girl with Takayasu Arteritis and Moyamoya Syndrome.

Concurrent involvement of bilateral renal and cerebral arteries, usually incurred as stenosis, is rare in childhood-onset Takayasu arteritis (c-TA). We report the case of a 14-year-old girl, with c-TA, presenting with transient ischemic attack after endovascular revascularization for renal artery stenosis and cerebrovascular stroke after surgical revascularization for cerebral artery stenosis associated with childhood-onset moyamoya syndrome. We deem that decrease of blood pressure by endovascular revascularization and improvement of cerebral perfusion by surgical revascularization may have jeopardized the cerebral deep watershed zone to cerebral ischemia followed by cerebral hyperperfusion syndrome and caused transient ischemic attack and cerebrovascular stroke in our patient. Revascularization could be a double-edge sword for c-TA patients presenting with concomitant renal artery stenosis and cerebral artery stenosis, and should be performed with caution. Quantitative analysis of cerebral blood flow by brain magnetic resonance imaging and angiography should be performed within 48 hours after surgical revascularization in c-TA.

Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI).

Mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome) is caused by deficient activity of the enzyme, N-acetylgalactosamine-4-sulfatase, resulting in impaired degradation of the glycosaminoglycan dermatan sulfate. Patients experience a range of manifestations including joint contractures, short stature, dysostosis multiplex, coarse facial features, decreased pulmonary function, cardiac abnormalities, corneal clouding and shortened life span. Recently, clinicians from institutions in the Asia-Pacific region met to discuss the occurrence and implications of delayed diagnosis and misdiagnosis of MPS VI in the patients they have managed. Eighteen patients (44% female) were diagnosed. The most common sign presented by the patients was bone deformities in 11 patients (65%). Delays to diagnosis occurred due to the lack of or distance to diagnostic facilities for four patients (31%), alternative diagnoses for two patients (15%), and misleading symptoms experienced by two patients (15%). Several patients experienced manifestations that were subtler than would be expected and were subsequently overlooked. Several cases highlighted the unique challenges associated with diagnosing MPS VI from the perspective of different specialties and provide insights into how these patients initially present, which may help to elucidate strategies to improve the diagnosis of MPS VI.

Overcoming the barriers to diagnosis of Morquio A syndrome.

BACKGROUND: Morquio A syndrome is an autosomal recessive lysosomal storage disease often resulting in life-threatening complications. Early recognition and proficient diagnosis is imperative to facilitate prompt treatment and prevention of clinical complications. METHODS: Experts in Asia Pacific reviewed medical records focusing on presenting signs and symptoms leading to a diagnosis of Morquio A syndrome. RESULTS: Eighteen patients (77% female) had a mean (median; min, max) age of 77.1 (42.0; 0.0, 540.0) months at symptom onset, 78.9 (42.0; 4.5, 540.0) months at presentation and 113.8 (60.0; 7.0, 540.0) months at diagnosis. Orthopedic surgeons and pediatricians were most frequently consulted pre-diagnosis while clinical geneticists/metabolic specialists most frequently made the diagnosis. Delayed diagnoses were due to atypical symptoms for 5 patients (28%), while 4 patients (22%) experienced each of subtle symptoms, symptoms commonly associated with other diseases, or false-negative urine glycosaminoglycan analysis. Two patients (11%) each experienced overgrowth within the first year of life. Two patients with Morquio A syndrome (11%) were diagnosed with craniosynostosis and 1 (6%) for each of Legg-Calvé-Perthes disease, Leri-Weill syndrome, and pseudoachondroplasia. Early radiographic features of Morquio A syndrome led to more efficient diagnosis. CONCLUSIONS: Increased awareness of clinical symptomology overlapping with Morquio A syndrome is essential. Clinicians encountering patients with certain skeletal dysplasia should consider Morquio A syndrome in their differential diagnosis. Atypical or subtle symptoms should not eliminate Morquio A syndrome from the differential diagnosis, especially for patients who may have non-classical phenotype of Morquio A syndrome.

Clinical features, acute complications, and outcome of Salmonella meningitis in children under one year of age in Taiwan.

BACKGROUND: Salmonella meningitis remains a threat to children below two years of age in both developing and developed countries. However, information on such infections has not been well characterized. We analyzed data related to twelve years of experience in order to clarify the comprehensive features of Salmonella meningitis in our patients, including admission characteristics, acute complications, and long-term outcome. METHODS: The records of patients with spontaneous Salmonella meningitis from 1982 to 1994 were retrospectively reviewed. The long-term outcome was prospectively determined for survivors at school age by the developmental milestones reported by their parents and detailed neurological evaluation along with intelligence, hearing, visual, speech and language assessments. RESULTS: Of the twenty-four patients, seizures were noted in fifteen (63%) before admission and thirteen (54%) during hospitalization. Acute complications mainly included hydrocephalus (50%), subdural collection (42%), cerebral infarction (33%), ventriculitis (25%), empyema (13%), intracranial abscess (8%), and cranial nerve palsy (8%). Three patients (13%) died during the acute phase of Salmonella meningitis. The twenty-one survivors, on whom we followed up at school age, have sequelae consisting of language disorder (52%), motor disability (48%), intelligence quotient < 80 (43%), epilepsy (33%), sensorineural hearing loss (17%), visual deficits (10%), abducens nerve palsy (5%), microcephaly (5%), and hydrocephalus (5%). Overall, good outcome was noted in six (28.6%) of twenty-one survivors, mild sequelae in three (14.2%), moderate in six (28.6%), and severe in six (28.6%). CONCLUSION: Salmonella meningitis in neonates and infants had a wide spectrum of morbidity and acute complications, leading to a complicated hospital course and subsequently a high prevalence of permanent adverse outcome. Thus, early recognition of acute complications of Salmonella meningitis and a follow-up plan for early developmental assessment of survivors are vital.

Congenital stridor and wheezing as harbingers of the del22q11.2 syndrome presenting cardiovascular malformations of right aortic arch, aberrant left subclavian artery, Kommerell's diverticulum, and left ligamentum arteriosum.

A complete vascular ring composed of right aortic arch, aberrant left subclavian artery with Kommerell's diverticulum, and left ligamentum arteriosum was diagnosed by barium esophagography, echocardiography, angiography, and multidetector computed tomography of chest in an 18-day-old male neonate who presented with remarkable inspiratory stridor, expiratory wheezing, postprandial vomiting, and dysphagia since birth, and survived surgical division of the left ligamentum arteriosum, resection of the Kommerell's diverticulum, and reimplanation of the left subclavian artery to the left common carotid artery. Cytogenetic analysis and fluorescence in situ hybridization study of his blood revealed chromosome 22q11.2 deletion, with a karyotype of 46,XY.ish del(22)(q11.2 q11.2). A constellation of right aortic arch, aberrant left subclavian artery with Kommerell's diverticulum, and left ligamentum arteriosum in neonates may cause refractory stridor, wheezing, vomiting, and dysphagia, which can serve as harbingers of the del22q11.2 syndrome.

Unilateral agenesis of the internal carotid artery in CHARGE syndrome.

CHARGE syndrome is a multisystemic disorder comprising colobomas, heart defects, choanal atresia, retarded growth and development, genital hypoplasia, ear anomalies and deafness. The CHD7 gene on chromosome 8q12.1 was recently shown to be a major gene involved in the etiology of this syndrome. We describe a girl with CHARGE syndrome who had a novel mutation of CHD7 associated with agenesis of the left internal carotid artery. She had presented with recurrent episodes of photophobia and vomiting since the age of 6 years. Since her symptoms were well controlled by cyproheptadine, migraine-like attacks were considered. CHD7 molecular confirmation in this patient provides further evidence to support the occurrence of a vascular anomaly suggested from animal models of CHARGE syndrome with molecular delineation. We report this case to emphasize the importance of neurologic signs of photophobia and to highlight the broad clinical variability in this pleiotropic disorder.

Mirror-image type D interrupted aortic arch: a novel cardiac phenotype providing some perspective in the del22q11.2 syndrome.

A 1-day-old baby boy was referred from a local obstetric clinic due to feeble crying, tachypnea, and tachycardia. Two-dimensional echocardiography with Doppler and multidetector computer tomography showed mirror-image type D interrupted aortic arch, conotruncal ventricular septal defect, and patent ductus arteriosus. Emergency cardiac surgery by a biventricular Norwood procedure was performed to relieve his symptom and sign of congestive heart failure successfully. Thymus could not be seen by surgical exploration of the superior mediastinum. Serum C-terminal parathyroid hormone was decreased to less than the normal lower limit. Cytogenetic analysis and fluorescence in situ hybridization study of blood revealed a deletion in chromosome 22q11.2. To the best of our knowledge, mirror-image type D interrupted aortic arch has never been reported in patients with the del22q11.2 syndrome in the English literature. This unusual aortic arch anomaly may provide us a new perspective in the spectrum of cardiovascular malformations in the del22q11.2 syndrome and advocate 22q11.2 deletion as one of the genetic causes of some rare aortic arch anomalies and their correspondent mirror-images.

Gastric subserosal hematoma developing from focal pancreatitis: a case report.

Pancreatitis complicated by gastric wall hemorrhagic is rarely reported. The imaging findings of focal pancreatitis with gastric wall hemorrhage can mimic a disease entity of gastric origin. We report a case of gastric subserosal hematoma developing in a patient with focal pancreatitis. The patient was initially scheduled to receive subtotal gastrectomy due to a presumed diagnosis of a disease entity of gastric origin. Computed tomography of the abdomen revealed focal pancreatitis that had eroded the gastric wall resulting in subserosal hemorrhage. The radiologist informed the surgeon of the possibility of focal pancreatitis complicated by gastric hemorrhage. The gastric subserosal hematoma was treated with percutaneous drainage and the patient recovered uneventfully.

Safe depth of abdominal acupoints in pediatric patients.

OBJECTIVES: To evaluate the depths to which acupuncture needles can be inserted safely (safe depth) in 12 abdominal acupoints in pediatric patients. This study also evaluates the variations in safe depth according to sex, age, body weight, and waist girth. DESIGN: We retrospectively studied computerized tomography (CT) images of pediatric patients aged 7-15 years who had undergone abdominal CT scans at our hospital from January 1997 to March 2006. The safe depth of 12 acupoints along the conception vessel (CV) meridian (Renmai), CV-2 to CV-7 and CV-9 to CV-14, were measured directly on the CT images. The relationship between the safe depth of these acupoints and sex, age, body weight and waist girth was analyzed by one-way ANOVA and multiple linear regression analysis. RESULTS: A total of 219 patients were included in this study. Except for CV-2, there was no significant difference in safe depth of the other 11 acupoints between sexes. The safe depth of all 12 CV acupoints increased significantly (P<0.001) with age, body weight and waist girth. There were large variations in the safe depth of the 12 points among different age and body weight groups. The safe depths were 1.3-2.1 times deeper in the 12-15-year-old group than in the 7-9-year-old group, and 1.7-3 times deeper in overweight children than in underweight children. CONCLUSION: The safe depth to which the 12 abdominal CV meridian acupoints can be needled significantly increases with age, body weight and waist girth in pediatric patients aged 7-15 years. Physicians who perform acupuncture in pediatric patients should be aware of the large variations in safe depth of acupoints to prevent possible complications.

Clinical spectrum of internal hernia: a surgical emergency.

PURPOSE: To define the indicators of bowel ischemia caused by congenital or acquired internal hernia, based on our 10-year experience in one center. METHODS: We reviewed the medical records, imaging studies, and operative findings of 20 patients who underwent surgery for an internal hernia at our medical center between 1995 and 2005. The clinical characteristics and related indicators of the patients with, and those without bowel ischemia were compared and analyzed statistically. RESULTS: The subtypes of congenital internal hernia (CIH) included transmesenteric (n = 6, 60%), paraduodenal (n = 2, 20%), and pericecal (n = 2, 20%) hernia. The abdominal surgical procedures preceding acquired internal hernia (AIH) were Roux-en-Y anastomosis (n = 6, 60%) and appendectomy (n = 3, 30%). Transmesenteric hernia was the most prevalent type of CIH in children. Abdominal rebound tenderness, advanced leukocytosis (>18 000/mm(3)), or a high level of manual band form (>6%) were the positive predictive factors for bowel ischemia, whereas a history of chronic intermittent abdominal pain was a negative indicator. No recurrence was noted during the 10-year study period. The overall mortality rate was 20%, attributable to enteral bacteria sepsis in all cases. CONCLUSION: Internal hernia is a rare but lethal condition. Early diagnosis and prompt surgical intervention provide the only chance of a successful outcome.

A systematic classification of the congenital bronchopulmonary vascular malformations: dysmorphogeneses of the primitive foregut system and the primitive aortic arch system.

PURPOSE: We reviewed the cases of 33 patients from our clinic and 142 patients from the literature with congenital bronchopulmonary vascular malformations (BPVM), systematically analyzed the bronchopulmonary airways, pulmonary arterial supplies, and pulmonary venous drainages, and classified these patients by pulmonary malinosculation (PM). MATERIALS AND METHODS: From January 1990 to January 2007, a total of 33 patients (17 men or boys and 16 women or girls), aged 1 day to 24 years (median, 2.5 months), with congenital BPVM were included in this study. Profiles of clinical manifestations, chest radiographs, echocardiographs, esophagographs, computer tomography (CT), magnetic resonance imaging (MRI), magnetic resonance angiography (MRA), cardiac catheterizations with angiography, contrast bronchographs, bronchoscopies, chromosomal studies, surgeries, and autopsies of these patients were analyzed to confirm the diagnosis of congenital BPVM. A total of 142 cases from the literature were also reviewed and classified similarly. RESULTS: The malformations of our 33 patients can be classified as type A isolated bronchial PM in 13 patients, type B isolated arterial PM in three, type C isolated venous PM in two, type D mixed bronchoarterial PM in five, type F mixed arteriovenous PM in one, and type G mixed bronchoarteriovenous PM in nine. CONCLUSION: Dysmorphogeneses of the primitive foregut system and the primitive aortic arch system may lead to haphazard malinosculations of the airways, arteries, and veins of the lung. A systematic classification of patients with congenital BPVM is clinically feasible by assessing the three basic bronchovascular systems of the lung independently.

Complications associated with embolization in the treatment of blunt splenic injury.

BACKGROUND: Nonoperative management (NOM) of blunt splenic injuries is widely accepted, and the use of splenic artery embolization (SAE) has become a valuable adjunct to NOM. We retrospectively review and discuss the complications derived from SAE. MATERIALS AND METHODS: The medical records of 152 consecutive patients with blunt splenic trauma admitted to our trauma center during a 33-month period were retrospectively reviewed. The patients were managed according to an established algorithm. The record review focused on the method of patient management (operative versus nonoperative) and use of SAE. The complications encountered following SAE are discussed in detail. RESULTS: Altogether, 73 patients underwent emergency surgery (58 splenectomies, 15 splenorrhaphies), and 79 patients had NOM. Of the 79 patients with NOM, 58 were successfully treated; 2 patients required splenectomy after 24 hours. The remaining 21 patients had SAE, including 18 distal and 3 proximal embolizations. Major complications occurred in 28.5% of the SAE-treated patients and included total splenic infarction, splenic atrophy, and postprocedure bleeding. Minor complications occurred in 61.9% of the patients and included fever, pleural effusion, and partial splenic infarction. CONCLUSION: SAE is considered a valuable adjunct to NOM in the treatment of blunt splenic injuries; however, risks of major and minor complications do exist, and SAE should be offered with caution and followed up appropriately.

Endoscopic surgery for nasal glioma mimicking encephalocele in infancy.

Intranasal gliomas are challenging for several reasons. Their diagnosis may not be immediately obvious at presentation. It is important to exclude an intracranial extension, and for this some have suggested a craniotomy. We report a 9-day-old male infant in whom an intranasal glioma that mimicked an encephalocele was successfully excised by endoscopic approach after failure to excise it through a craniotomy. After more than a 5-year follow-up, the patient is still free from the disease. An endoscopic intranasal approach provides a safe and effective method for the management of nasal glioma and does not result in postoperative facial scaring or deformity. Endoscopic techniques provide excellent visualization and are preferable to the classic frontal craniotomy to excluding intracranial extension of nasal glioma.

Early selective angioembolization improves success of nonoperative management of blunt splenic injury.

The role of angioembolization in the management of patients with blunt spleen injury is still under debate. Our study examined the impact of splenic artery embolization (SAE) on the outcome of such patients. We reviewed 114 consecutive blunt abdominal trauma patients with isolated splenic injury over a period of 40 months, including 61 patients seen before (Group A) and 53 patients seen after (Group B) the adoption of SAE. Hemodynamically unstable patients underwent the abdominal exploration and stable patients were evaluated with CT scans of abdomen and pelvis. Patients underwent SAE based on the findings of CT scans, including contrast extravasation or large hemoperitoneum. For initially stable patients, there were no differences in nonoperative management success rate between Groups A and B in regards to injury severity score > or =16, age, or grades of splenic injury > or =3. In comparison, among patients with large hemoperitoneum found by abdominal CT, Group B had significantly better nonoperative management success rates (P < 0.05). SAE was successful to control bleeding in 80 per cent of patients. Partial splenic infarction was noted in all patients after the procedure but it resolved by six months. By using criteria developed based on abdominal CT scans for angioembolization, we are able to improve nonoperative splenic salvage rate.

Gallbladder torsion: preoperative diagnosis by MDCT.

The patient was a 80-year-old female who was diagnosed as having gallbladder torsion preoperatively. To out knowledge, this is the first reported case diagnosed by CT with a multidetector CT scanner. The abdominal CT showed a V-shape distortion of the extrahepatic ducts, twisting cystic artery with "Whirl's sign", distended and enlarged gallbladder with wall hemorrhage. A definitive diagnosis of gallbladder torsion was made by CT preoperatively. If treated surgically, gallbladder detorsion before cholecystectomy is a helpful technique to avoid bile duct injury. This condition should be suspected in elderly women with acute abdominal pain of unknown origin, and MDCT with multiplanar reformation is very useful in making a definitive diagnosis.

Transcatheter occlusion of the isolated scimitar vein anomaly camouflaged under dual pulmonary venous drainage of the right lung by the Amplatzer Ductal Occluder.

A 3.5-year-old girl, who presented recurrent pneumonia without discernible cyanosis or desaturation due to isolated scimitar vein anomaly camouflaged by dual pulmonary venous drainage of the right lung, underwent anterograde transvenous occlusion for this abnormal vessel successfully by the Amplatzer Ductal Occluder at 4 years old.