[Show abstract][Hide abstract] ABSTRACT: Multiple acyl-CoA dehydrogenation deficiency (MADD), or glutaric acidemia type 2, is an autosomal-recessive, genetic metabolic disorder affecting amino acid, fatty acid, and choline mechanisms. While most cases present themselves at birth or at an early age, it is also quite possible to get a diagnosis well into adulthood. For these late-onset patients, the road to diagnosis is often long, painful, and frustrating. The goal of this work is to identify the common symptoms and patterns among patients who are diagnosed very late after the onset of their symptoms. We take a graphical approach and present a new way to look at data. Using colorful plots, we observe patterns among the patients and their symptoms. We hope this can help develop new approaches to diagnose patients and therefore facilitate early diagnosis. Data related to age at the onset of symptoms, age at diagnosis, gender, and various common symptoms are studied.
UMDF Mithochondrial Medicine Conference, Washington, DC; 06/2015
[Show abstract][Hide abstract] ABSTRACT: OBJECT The cranium is documented to grow from birth through adolescence. The standard of practice in primary care is measuring head circumference and plotting growth using curves that stop at 36 months. The authors report the importance of their experience with measuring head circumference in the child and same-sex parent beyond 36 months. METHODS In the University of Florida genetics and pediatric neurosurgery clinics, head circumference is measured and plotted on growth charts through 18 years of age. Circumference and rate of growth over time are compared with those of the same-sex parent. A diagnostic workup is initiated if there is a discrepancy with the patient's head circumference or if there is significant change in the growth rate of the cranium. RESULTS Between January 2004 and December 2007, the lead author examined 190 patients referred by pediatricians and/or pediatric subspecialists because of the concerns regarding head size of the child. Neuroimaging was performed in 70% of the patients prior to referral. None of the patients had their head size compared with that of their same-sex parent prior to referral. On assessing referring physician responses as to why the same-sex parents, head measurements were not pursued prior to imaging or referral to the specialists, the results were: 1) only have head circumference sheets to 36 months of age (n = 28); 2) the American Academy of Pediatrics does not recommend it (n = 3); and 3) the head stops growing at 36 months of age (n = 2). CONCLUSIONS Pediatricians and pediatric subspecialists need instruction on head circumference measurement in children from infancy through adolescence, and when indicated, in comparison with the head size of the same-sex parent. This measurement may be an effective and inexpensive assessment tool.
[Show abstract][Hide abstract] ABSTRACT: Infants and children with microcrania are referred to pediatric neurosurgeons for evaluation and treatment of possible craniosynostosis and other disorders. We present an approach to these children to facilitate the appropriate clinical evaluation and management.
We reviewed our experience and the literature on infants and children with microcephaly, and developed a management strategy for these children when seen in the University of Florida Division of Pediatric Neurosurgery.
We request the same sex parent to accompany the child for their consultation. If the head circumference of the child matches that of the same sex parent in percentiles, and there are no other abnormalities, no further assessment or studies are performed. If there is a disproportionate head size to that of the same sex parent and/or other structural abnormalities are present, the child is referred to clinical genetics for further assessment.
When patients are referred to pediatric neurosurgery for microcrania, their head size should be compared to that of the same sex parent. This will facilitate the diagnosis of familial microcephaly, and if no other abnormalities are noted, no further studies or surgical interventions are necessary.