Surgery, somatostatin analogs, and cabergoline did not control vertical growth and pegvisomant was added, although vertical growth continues (currently 207 cm at 11 years 7 months of age).
His thyrotrope, corticotrope, and gonadotrope axes were deficient. MRI showed an invasive mass measuring 56.2 × 58.1 × 45.0 mm, with compression of optic chiasma, bilateral cavernous sinus invasion, and hydrocephalus. At the age of 10 years and 7 months, he presented again with headaches, seizures, and visual disturbance. Treatment was declined and the family was lost to follow-up. MRI showed a non-invasive sellar mass measuring 32.5 × 23.9 × 29.1 mm. His height was 163 cm, his weight was 36 kg, and he had markedly elevated GH and IGF-1. The patient first presented elsewhere aged 5 years 8 months with a history of excessive growth for >2 years. We describe the clinical progress of a sporadic male X-LAG syndrome patient with an Xq26.3 microduplication, highlighting the aggressive natural history of pituitary tumor growth in the absence of treatment. X-linked acro-gigantism (X-LAG) syndrome is a newly described disease caused by microduplications on chromosome Xq26.3 leading to copy number gain of GPR101. Careful and detailed counselling is needed before embarking on treatment. There was no difference in patient satisfaction between the PE and comparison group. PE is safe and effective in children with predicted excessive AH. Satisfaction was high in both the comparison and PE groups most patients in the PE group recommended PE as the treatment for close relatives with tall stature. No significant difference in knee function was found between treated cases and comparisons. Long-term complications in file search were seen in 2.6% (axis deformity 1.3%, prominent head of fibula 1.3%). Short-term complications in file search were seen in 5.1% (three infections, one temporary nerve injury), one requiring reoperation. In the PE-treated group, final height was 7.0 cm (☖.3 cm) lower than predicted in boys and 5.9 cm (☓.7 cm) lower than predicted in girls. The primary hypothesis was that PE around the knee in constitutionally tall boys and girls is an effective treatment for reducing final height with low complication rates and a high level of patient satisfaction.ħ7 treated adolescents and 60 comparisons.ĪH, complications, knee function, satisfaction.
This Dutch multicentre, long-term, retrospective, follow-up study aimed to assess adult height (AH), complications, knee function and patient satisfaction after PE. Studies until now included small numbers of patients and short follow-up periods.
Percutaneous epiphysiodesis (PE) around the knee to reduce predicted excessive final height. We thus provide a clinico-radiological algorithm to guide pediatricians in the assessment of children with macrocephaly. In this review, we seek to underline the clinical aspects of macrocephaly and megalencephaly, emphasizing the main differential diagnosis with a major focus on common genetic disorders.
Apart from the head size evaluation, a detailed family and personal history, neuroimaging, and a careful clinical evaluation are crucial to reach the correct diagnosis. While macrocephaly can be isolated and benign or may be the first indication of an underlying congenital, genetic, or acquired disorder, megalencephaly is most likely due to a genetic cause. Moreover, macrocephaly should be differentiated by megalencephaly (MEG), which refers exclusively to brain overgrowth, exceeding twice the SD (3SD-“clinically relevant” megalencephaly). This implies the urgent need for a diagnostic workflow to use in the clinical setting to dissect the several causes of increased OFC, from the benign form of familial macrocephaly and the Benign enlargement of subarachnoid spaces (BESS) to many pathological conditions, including genetic disorders. Taking into account that about 2–3% of the healthy population has an OFC between 2 and 3 SD, macrocephaly is considered as “clinically relevant” when OFC is above 3 SD. Macrocephaly affects up to 5% of the pediatric population and is defined as an abnormally large head with an occipitofrontal circumference (OFC) >2 standard deviations (SD) above the mean for a given age and sex.
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