Successful Treatment for Hepatoblastoma in Trisomy 18: A Case Report.

Children with trisomy 18 tend to develop hepatoblastoma. Since the introduction of appropriate management for organ malfunction, individuals with trisomy 18 have come to have a longer life expectancy. However, the predisposition to hepatoblastoma becomes a significant issue for the quality of a case. Here, we present a rare multifocal hepatoblastoma involving predominantly Couinaud segments 5 and 7 in a 10-month-old boy with trisomy 18. Though the first-line cisplatin monotherapy resulted in unsatisfactory tumor shrinkage, the second-line neoadjuvant chemotherapy administrating irinotecan and vincristine gave rise to significant tumor reduction in volume, leading to the completion of partial resection of the liver without the microscopic residual disease. The patient has been free from recurrence for 44 months. Because anatomical right hepatectomy can cause circulatory instability, including acute onset of pulmonary hypertension in trisomy 18 patients, physicians should balance treatment benefits and potential adverse effects. Our successful experience utilizing a combination of efficacious and less cardiotoxic neoadjuvant chemotherapy followed by the partial hepatectomy encourages physicians to treat a patient with trisomy 18 and tackle hepatoblastoma with a genetic background.

FKRP mutations cause congenital muscular dystrophy 1C and limb-girdle muscular dystrophy 2I in Asian patients.

Mutation in the fukutin-related protein (FKRP) gene causes alpha-dystroglycanopathies, a group of autosomal recessive disorders associated with defective glycosylated alpha-dystroglycan (α-DG). The disease phenotype shows a broad spectrum, from the most severe congenital form involving brain and eye anomalies to milder limb-girdle form. FKRP-related alpha-dystroglycanopathies are common in European countries. However, a limited number of patients have been reported in Asian countries. Here, we presented the clinical, pathological, and genetic findings of nine patients with FKRP mutations identified at a single muscle repository center in Japan. Three and six patients were diagnosed with congenital muscular dystrophy type 1C and limb-girdle muscular dystrophy 2I, respectively. None of our Asian patients showed the most severe form of alpha-dystroglycanopathy. While all patients showed a reduction in glycosylated α-DG levels, to variable degrees, these levels did not correlate to clinical severity. Fifteen distinct pathogenic mutations were identified in our cohort, including five novel mutations. Unlike in the populations belonging to European countries, no common mutation was found in our cohort.

Persistent QT Prolongation in a Child with Gitelman Syndrome and SCN5A H558R Polymorphism.

Gitelman syndrome (GS) is an inherited renal tubular disorder characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and low urinary calcium excretion. While it is considered a benign disease, severe ventricular arrhythmia and sudden cardiac death related to the prolongation of the QT interval have been reported in rare cases. Herein we report a 13-year-old girl with GS who presented with persistent prolongation of the QT interval, even after being treated for hypokalemia and hypomagnesemia. Genetic analysis identified SCN5A H558R polymorphism, which modulates the function of myocardial sodium channel, and SLC12A3 A588V mutation, which causes GS. The SCN5A polymorphism and GS-related electrolyte disturbance might have contributed to the persistent QT prolongation in this patient. Although no ventricular arrhythmias were recorded in this case, careful cardiac surveillance should be applied for avoiding life-threatening cardiac events.

Laryngo fiberscopy-guided suspension procedure for an ectopic lingual thyroid obstructing airway.

BACKGROUND: Currently, there is no consensus regarding the optimal therapeutic strategy for the management of an ectopic lingual thyroid. A surgical approach is suggested when airway obstructive symptoms cannot be tolerated at all, or when bleeding or malignancy occurs. However, for patients in whom ectopic thyroid is the only functioning thyroid tissue, complete surgical excision needs to be followed by lifelong hormone replacement therapy. We report the case of an infant with ectopic lingual thyroid obstructing the airway that was treated using our novel surgical procedure. CASE PRESENTATION: A 10-day-old male infant presented with symptoms of airway obstruction and subclinical hypothyroidism. Imaging tests revealed an ectopic lingual thyroid and the absence of a normal pretracheal thyroid gland. We administered oral levothyroxine to lower his thyroid stimulating hormone (TSH) level and reduce the volume of the lingual mass; however, his airway symptoms did not improve. Subsequently, we performed a surgical intervention when he was 2 months old. We split the hyoid bone, and then suspended the lingual thyroid by suturing it to the hyoid bone to elevate the epiglottis. We confirmed the degree of suspension using intraoperative laryngo fiberscopy. After the surgery, the symptoms of airway obstruction were resolved and the patient was clinically euthyroid on low-dose oral levothyroxine. CONCLUSIONS: Our laryngo fiberscopy-guided suspension procedure can be an effective surgical procedure for the treatment of ectopic thyroid. This relatively simple surgical procedure could completely preserve the patient's thyroid tissue and resolve airway obstruction.

Serum dipeptidyl peptidase 4 activity in children with type 1 diabetes mellitus.

BACKGROUND: It is poorly understood whether dipeptidyl peptidase 4 (DPP4) activity is altered and how DPP4 contributes to glycemic control in patients with type 1 diabetes mellitus (T1DM). AIM: The aim of this study was to measure serum DPP4 activity and to assess its relationships to metabolic variables in T1DM children. METHODS: Serum DPP4 activity was determined using a fluorometric assay in 43 T1DM and 26 control children. RESULTS: Serum DPP4 activity was significantly higher in T1DM children than in controls (3.57 ± 0.99 vs. 2.67 ± 0.77 U/mL, p<0.001). In the T1DM children, DPP4 activity was not correlated with HbA1c, blood glucose, or diabetes duration. A significant negative correlation was found between DPP4 activity and serum adiponectin levels in the T1DM group (r=-0.35, p<0.05). CONCLUSIONS: Serum DPP4 activity was increased in the T1DM children, whereas it was not associated with glycemic control. Given the negative correlation between serum DPP4 and adiponectin levels, further investigations are warranted to elucidate the role of DPP4 on insulin sensitivity in T1DM children.

The use of cyclosporine in a boy with a prior episode of posterior encephalopathy.

We report the case of a 12- year-old Japanese boy who was receiving cyclosporine (Cs A) for steroid-dependent nephrotic syndrome despite a prior episode of Cs A-associated posterior encephalopathy. At the third relapsing of nephrotic syndrome, Cs A was initiated. Eight days after the Cs A therapy, the boy was admitted to the University Hospital of Tsukuba because of generalized convulsion. Magnetic resonance imaging (MRI) showed hyperintense lesions involving the bilateral parieto-occipital region. Cs A was discontinued, and cyclophosphamide was started. The boy had a 6-month drug-free period after the cyclophosphamide treatment and then relapsed three more times in the following 5 months. As the prednisolone dosage could not be decreased to less than 2 mg/kg/48 h, the patient was re-challenged with Cs A 1 1/2 years later. Blood pressure and serum Cs A levels were measured frequently, an anti-hypertensive drug was given, and MRI was done four times to detect hyperintense lesions. He has been receiving Cs A for 9 months, and MRI has revealed no abnormalities. At the latest follow-up, dated 12 April 2004, he was in a remissive state of nephrotic syndrome. This is the first report of giving Cs A to a nephrotic child who had a previous history of Cs A-associated posterior encephalopathy.