Laat, P.C.J. de

Muscle fiber-type distribution, fiber-type-specific damage, and the Pompe disease phenotype (Article)

2012-10-11T00:00:00Z

Pompe disease is a lysosomal storage disorder caused by acid α-glucosidase deficiency and characterized by progressive muscle weakness. Enzyme replacement therapy (ERT) has ameliorated patients' perspectives, but reversal of skeletal muscle pathology remains a challenge. We studied pretreatment biopsies of 22 patients with different phenotypes to investigate to what extent fiber-type distribution and fiber-type-specific damage contribute to clinical diversity. Pompe patients have the same fiber-type distribution as healthy persons, but among nonclassic patients with the same GAA mutation (c.-32-13T>G), those with early onset of symptoms tend to have more type 2 muscle fibers than those with late-onset disease. Further, it seemed that the older, more severely affected classic infantile patients and the wheelchair-bound and ventilated nonclassic patients had a greater proportion of type 2x muscle fibers. However, as in other diseases, this may be caused by physical inactivity of those patients.

Evaluation of intra-lesional corticosteroids in the treatment of peri-ocular haemangioma of infancy: still an alternative besides propranolol (Article)

2011-12-26T00:00:00Z

Purpose: Haemangioma of infancy (HOI) is the most frequently occurring benign tumour of infancy. Alarming HOI require treatment. Current therapy is empirically based; corticosteroids are often administered but in recent publications propranolol was reported to be more effective. Peri-ocular HOI are highly sensitive to corticosteroids. Our goal was to evaluate the effectiveness of intra-lesional corticosteroids in the treatment of peri-ocular HOI. Methods: We selected all patients with peri-ocular HOI who had only been treated with intra-lesional corticosteroids at our hospital from 1993 until 2009. Treatment was standardized according to a prospective protocol. Results: A total of n = 34 patients were included. There were no complications at all after therapy. A second intra-lesional injection was necessary in five patients. At follow-up after 6 and 12 months after injection, 94 and 91% of the patients, respectively, had regression of the HOI. Astigmatism, Haemangioma Activity Score and global assessments all had improved after therapy. Conclusions: This study shows that intra-lesional therapy with corticosteroids is very safe in the treatment of peri-ocular HOI. It remains a good and safe alternative besides propranolol or when propranolol therapy is not possible (e.g. asthma, PHACE syndrome, and certain cardiac diseases).

Do we have to check glucose in patients with haemangioma of infancy treated with beta-blockers? (Article)

2011-12-01T00:00:00Z

Scoring the proliferative activity of haemangioma of infancy: The Haemangioma Activity Score (HAS) (Article)

2011-06-14T00:00:00Z

Background. Haemangioma of infancy (HOI) is the most frequently occurring benign tumour of infancy. A good, reliable and objective scoring system for haemangioma activity is not yet available. Aim. We have developed a simple system called the Haemangioma Activity Score (HAS) for scoring the (disease) proliferative activity of haemangiomas. The current study was undertaken to validate this system. Methods. We validated the HAS in a comparative study of photographs taken during consultations from 2000 until 2008 (n=78). Agreement between three observers was assessed at two different time points (t0and t1) with a minimum interval of 6months between them, using interclass correlation coefficients (ICC). Results. Agreement between observers was good. The average ICC of the HAS at t0and t1was 0.72 and 0.76, respectively. The average ICC of the HAS for the changes from baseline (HAS at t0minus HAS at t1) was 0.69. Conclusions. We conclude that the HAS is a good system for scoring the proliferative activity of haemangiomas, and believe it to be useful in future investigations. The number of studies comparing different therapies for treating haemangiomas is steadily increasing, and the HAS (before and after treatment) may provide a valuable scoring system for evaluating such therapies. © The Author(s). CED

Rhabdoid tumor mimicking hemangioma (Article)

2011-05-01T00:00:00Z

We report a young boy with a malignant tumor, which remained unrecognized for 8 months because it was assumed to be a hemangioma. The presentation of a rhabdoid tumor mimicking hemangioma is very rare. It was reported only on two earlier occasions. Rhabdoid tumors are one of the most aggressive types of malignancies encountered in pediatric oncology. It is important to recognize that a fast growing vascular lesion in a child will often be a hemangioma, but could also be an aggressive tumor.

Posterior reversible encephalopathy syndrome in childhood cancer (Article)

2011-02-02T00:00:00Z

Background: Posterior reversible encephalopathy syndrome (PRES) is characterized by seizures, headaches, altered mental status, cortical blindness and typical transient lesions on magnetic resonance imaging. Patients and methods: We describe seven childhood cancer patients with clinical and radiological symptoms of PRES, and reviewed all well-documented PRES cases reported during childhood cancer treatment. Results: Fifty-six children with PRES, including our 7 cases, were identified in the literature. Mean age at onset was 9 (range: 2-17) years. Primary diagnoses were acute lymphoblastic leukemia (n = 31), acute myeloid leukemia (n = 5), non-Hodgkin lymphoma (n = 7) and solid tumors (n = 13). PRES patients presented with seizures (n = 50), altered mental status (n = 20), visual disturbances (n = 24) and/or headaches (n = 17). PRES was associated with hypertension in 49 patients. About 86% of the patients had both clinical and radiological reversible symptoms. Four patients developed epilepsy, in one patient ataxia remained and one patient had a persistent mydriasis. Conclusion: Although PRES has predominantly been described in leukemia patients, it occurs in children with solid tumors as well. Hypertension seems to be the most important trigger for the occurrence of PRES during childhood cancer treatment. Seizures are the most common accompanying sign. Symptoms and radiological findings normalize in ~90% of the cases, but in 10% neurological symptoms remain.

Haemangioma of infancy: Two case reports with an overdose of propranolol (Article)

2011-01-01T00:00:00Z

An 8-week-old infant was treated with oral propranolol for a haemangioma of infancy. The standard dose (according to protocol) is 2 mg/kg/day but, because of a mistake by the pharmacist, the child was treated with 8 mg/kg/day without any side effects (pulse, blood pressure and glucose stayed normal). Copyright

Chemotherapy does not influence intestinal amino acid uptake in children (Article)

2007-08-01T00:00:00Z

Chemotherapy will frequently induce intestinal damage (mucositis). Enteral nutrition is then often withheld for fear of impaired intestinal absorption as shown in animal models. There is no clinical evidence, however, that absorption is indeed compromised during chemotherapy-induced mucositis. The aim of this study was to evaluate systemic availability of dietary amino acids (leucine) during chemotherapy-induced mucositis. We studied eight childhood cancer patients (age 1.5-16 y) on 2 d, i.e. the day before chemotherapy and 3-5 d after. Chemotherapy-induced oral mucositis and diarrhea were scored on a World Health Organization toxicity scale. Stable isotope tracers were used to measure first-pass splanchnic leucine uptake and whole-body leucine kinetics. Patients showed increased mucositis and/or diarrhea toxicity scores (p < 0.0001) after chemotherapy. Systemic availability of enterally administered leucine was not significantly affected by chemotherapy (before 60%, after 90%, p = 0.46). Interestingly, five patients already showed a negative leucine balance before chemotherapy. In conclusion, most children receiving chemotherapy are already catabolic before start of a new cycle of chemotherapy. Amino acid transport as measured by leucine uptake in the intestine is not affected by chemotherapy-induced mucositis.