Brain hemorrhages in Jacobsen syndrome: A retrospective review of six cases and clinical recommendations

Abstract

Jacobsen syndrome is a rare chromosomal disorder caused by distal deletions in the long arm of chromosome 11. All patients with Jacobsen syndrome have Paris-Trousseau syndrome, a bleeding disorder that causes neonatal thrombocytopenia, and persistent platelet dysfunction. Despite that, to date there are no reported cases of hemorrhagic strokes occurring in patients with Jacobsen syndrome. In the last 6 years at least six cases of brain hemorrhages in patients with Jacobsen syndrome have occurred. In this report, we perform a retrospective review of these six cases. The analysis indicates that the etiology of brain hemorrhages in Jacobsen syndrome is likely multifactorial. A likely cause (or causes) was identified in three of the cases, and additional potential risk factors were identified. Based on these findings, clinical recommendations are provided that should aid in the identification of those individuals with Jacobsen syndrome that are at increased risk for brain hemorrhages, and will hopefully decrease the occurrence of this devastating complication in people with Jacobsen syndrome.© 2017 Wiley Periodicals, Inc.

Endocrine Long-Term Follow-Up of Children with Neurofibromatosis Type 1 and Optic Pathway Glioma

“…The high prevalence of CPP in NF1 children with OPG is consistent with the theory that lesions located close to the hypothalamus interfere with tonic central nervous inhibition of the hypothalamic- pituitary-gonadal axis, resulting in premature onset of puberty [30]. Since 1990, the CPP prevalence in the NF1 population has been reported to be higher (3%) [12, 28, 29] than in the general population (0.6%). A few old studies suggested an association between CPP and NF1 itself [12, 31], independent of OPG chiasma involvement, but in further studies, the causative role of OPG was recognised [28, 29].…”

“…Since 1990, the CPP prevalence in the NF1 population has been reported to be higher (3%) [12, 28, 29] than in the general population (0.6%). A few old studies suggested an association between CPP and NF1 itself [12, 31], independent of OPG chiasma involvement, but in further studies, the causative role of OPG was recognised [28, 29]. The largest study by Virdis et al [32] in 412 NF1 patients, evaluating the prevalence of CPP and the association with OPG, concluded that the higher incidence of CPP in NF1 patients is related to the presence of an OPG and that the frequency of CPP in NF1 patients without OPG is comparable to that of the general population.…”

“…We hypothesise that the tumour itself can cause GHD and that irradiation may hasten the onset of GHD, masking the evolution that would otherwise occur in the absence of radiotherapy. The exact incidence of GHD in the general NF1 population (i.e., without OPG) has not been defined yet, and although it has been described as commoner in children with NF1 than in the general population by Cnossen et al in 1997 [12], no further studies have confirmed this finding so far [23]. In our population, the overall response to GH treatment was good, with an increase in mean height difference SDS from –0.24 to +0.22.…”

“…The prevalence of endocrine disorders in NF1 patients with OPG is not well defined, and few data are available as most of the older published studies included only small numbers of children and even fewer without radiation therapy [12, 13], while more recent studies analysed optic or non-optic gliomas in populations with or without NF1 [2, 14, 15]. …”

Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association

“…Risk for bleeding is one of the most common causes of mortality in JS and likely places these patients at increased risk for the development of brain hemorrhages. 91,92,95 Platelet transfusion or desmopressin may be necessary for bleeding and high-risk procedures.…”