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.

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.

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.

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.

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.

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.

Appendico-ileal knotting resulting in closed-loop obstruction in a child.

A 1-year 7-month-old boy presented with sudden onset of severe vomiting and abdominal pain. Barium enema revealed the caecum was elevated by a mass and the ileocaecal junction was visualised with a very short segment of terminal ileum showing a 'bird's-beak' appearance. At surgery, an unusually long necrotic appendix knotting the terminal ileum resulted in strangulation of a segment of the terminal ileum. There was no evidence of torsion of the terminal ileum or appendix. To our knowledge, this is the first case of the appendix knotting the terminal ileum resulting in a strangulated closed-loop obstruction.

Revisit on congenital bronchopulmonary vascular malformations: a haphazard branching theory of malinosculations and its clinical classification and implication.

We propose a haphazard branching theory to support the concept of bronchopulmonary malinosculations, and we apply this theory to classify congenital bronchopulmonary vascular malformation (BPVM) based on the anatomical results we have found. Between January 1990 and December 1997, a total of 22 pediatric patients (10 male and 12 female), aged 2 days to 14 years (median, 19.6 months), with congenital BPVM were enrolled in this retrospective study. Study modalities include the clinical features and plain chest films (n = 22) plus at least two of the following: echocardiography (n = 13), barium esophagraphy (n = 2), bronchoscopy (n = 4), contrast bronchography (n = 8), high-resolution direct coronal CT (n = 1) and electron beam or ultrafast CT (n = 1) of the chest, MRI (n = 10), MRA (n = 1), contrast cineangiocardiography (n = 9), surgery (n = 11), or autopsy (n = 2). The salient clinical features were recurrent lung infections in 14 patients, acute respiratory distress in 13, associated cardiovascular malformations in 8, dextroversion in 7, congestive heart failure in 7, dextrocardia in 4, and complex congenital heart diseases in 4. There were abnormal openings (malinosculations) of the pulmonary airway in 20 patients: to an artery in 12, to a vein in 8, and to the lung parenchyma in 9. These 22 patients with congenital BPVM can be classified into bronchial malinosculation (10 cases), arterial malinosculation (2 cases), and bronchoarterial malinosculation (10 cases). Congenital BPVM can be classified in terms of bronchopulmonary malinosculation based upon a haphazard branching theory, in which abnormal communications between two independent systems (primitive foregut system and aortic-pulmonary arch system) occurred coincidentally rather than causally.