BTBGD is a treatable condition if recognized early and managed appropriately. The recognition of this disorder is important to avoid incorrect diagnosis and mismanagement. Children presenting with unexplained encephalopathy and MRI abnormalities including bilateral signal alteration of caudate nucleus and putamen should raise the suspicion for BTBGD and be started immediately on biotin and thiamine regimen since the prognosis of the disease is affected by the timing of treatment initiation. We present a large family affected with this disorder with severe interfamilial variability and different prognosis despite having the same mutation and same environment. A clear genotype-phenotype correlation and the clinical heterogeneity remain to be elucidated. Bad prognostic factors observed in our review include early onset of the disease, missed or delayed diagnosis, systemic involvements including respiratory failure and rhabdomyolysis, and severe neurological deficit or radiological changes at the time of diagnosis and treatment initiation. We observed during our literature review that all patients who presented since birth died despite aggressive treatment. This observation may illustrate that early presentation and disease process leads to a more catastrophic outcome.
Background. Primary hyperparathyroidism is rare in pregnancy. An association between primary hyperparathyroidism and preeclampsia has been reported in few cases worldwide. Case. A 28-year-old woman (gravida 2, para 0, and abortus 1) in her 27th week of gestation was hospitalized due to a high reading of blood pressure (194/115 mmHg) that was not accompanied by any symptoms or signs of preeclampsia. Incidentally, she was found to have a high adjusted calcium and serum parathyroid hormone (PTH) level during admission. Ultrasonographic examination of the neck revealed the presence of parathyroid adenoma. She was scheduled for surgical excision after receiving an intravenous hydration. Fetal ultrasonography revealed a growth restricted fetus with normal biophysical profile. On the sixth day of hospitalization, the patient complained of headache and epigastric pain, with elevated BP and proteinuria. The fetal nonstress test was “nonreassuring.” Subsequently, she had an emergency cesarean delivery and surgical removal of the adenoma. The mother and her newborn were then transferred to intensive care, where their clinical course was unremarkable. The mother was discharged after 3 days, while the neonate stayed for close observation for 60 days. Conclusion. Early recognition of primary hyperparathyroidism among women with preeclampsia is important to prevent maternal and fetal morbidity and mortality.
Dasatinib is an oral second-generation multitarget tyrosine-kinase inhibitor (TKI) that is efficacious in treating imatinib-resistant chronic myeloid leukemia (CML) or intolerant cases. Noncutaneous adverse effects with dasatinib are well known in the literature, most commonly cytopenias and fluid retention, while pigmentary abnormalities have rarely been reported. We report the case of a 12-year-old male known case of CML, who presented to dermatology clinic approximately 2 years after initiating dasatinib treatment, with new-onset hypopigmentation of his upper limb, upper chest, and both knees of six months' duration.
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