Article ; Online: The search for a unifying diagnosis involving neurological, endocrine and immune dysfunction: a case report of a novel presentation of DAVID syndrome.
2022 Volume 22, Issue 1, Page(s) 706
Abstract: ... immune deficiency (DAVID) syndrome in a healthy young girl presenting in Addisonian crisis with raised ... intracranial pressure. Nearly all cases of DAVID syndrome described in the literature have presented with recurrent ... infections and variable immunodeficiency. Pseudotumour cerebri has not been reported in DAVID syndrome ...
| Abstract | Background: We report a novel presentation of deficit in anterior pituitary function with variable immune deficiency (DAVID) syndrome in a healthy young girl presenting in Addisonian crisis with raised intracranial pressure. Nearly all cases of DAVID syndrome described in the literature have presented with recurrent infections and variable immunodeficiency. Pseudotumour cerebri has not been reported in DAVID syndrome to date. Case presentation: A four-year-old girl represented to hospital with vomiting, confusion and diplopia after ten days of tiredness, neck and abdominal pain, and headache. Her cranial nerve examination demonstrated a right abducens nerve palsy and papilloedema, and she was found to have ketotic hypoglycaemia and hypocortisolaemia secondary to adrenocorticotrophic hormone (ACTH) deficiency. Her neuroimaging was consistent with pseudotumour cerebri, and her lumbar puncture opening pressure confirmed raised intracranial pressure (30-40 cmH Conclusions: This case demonstrates pseudotumour cerebri as a novel neurological presentation of DAVID syndrome, highlights the rare association between adrenal insufficiency and intracranial hypertension, and shows the challenges in diagnosing isolated ACTH deficiency. We emphasise that cortisol should be checked in pre-pubertal children with pseudotumour cerebri and a diagnosis of DAVID syndrome considered in those presenting with low cortisol and neurological symptoms. |
|---|---|
| Language | English |
| Publishing date | 2022-12-09 |
| Publishing country | England |
| Document type | Journal Article |
| ZDB-ID | 2041342-7 |
| ISSN | 1471-2431 ; 1471-2431 |
| ISSN (online) | 1471-2431 |
| ISSN | 1471-2431 |
| DOI | 10.1186/s12887-022-03760-x |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
More links
Kategorien
Order via subito
This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.