Cerebellar swelling due to familial hemophagocytic lymphohistiocytosis: An unusual presentation

Khan, Shamshad G.; Binmahfoodh, Mohammed; Alali, Muayad; Bayoumy, Mohammed; Al-Said, Youssef; Kayyali, Husam R.

doi:10.1016/j.ejpn.2015.04.009

Cited by 4 publications

(3 citation statements)

References 15 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Five similar children with imaging showing cerebellar swelling at the onset of primary HLH have been described previously (Table 3). 3,[26][27][28][29] Cerebellitis preceded systemic involvement or was followed by CNS-restricted disease in 4 cases. An unfamiliarity with this pattern led to diagnostic delays, and these children subsequently developed multifocal white matter lesions on follow-up.…”

Section: Discussionmentioning

confidence: 99%

“…All 8 children with reported MR imaging patterns 1.2 or 1.3 presented after 12 months, between 3 and 13 years of age (Table 3). 2,3,26,27,29 All patients with pattern 1.2 (3/ 3) had at least 1 disruptive mutation or missense mutations with absent protein expression. 2 Most patients with pattern 1.3 had either disruptive or missense mutations (4/5), but the data regarding protein expression in cases with missense mutations was not available (Table 3).…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

MRI Patterns in Pediatric CNS Hemophagocytic Lymphohistiocytosis

Malik¹,

Antonini²,

Mannam³

et al. 2021

AJNR Am J Neuroradiol

View full text Add to dashboard Cite

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

MRI Patterns in Pediatric CNS Hemophagocytic Lymphohistiocytosis

Malik¹,

Antonini²,

Mannam³

et al. 2021

AJNR Am J Neuroradiol

View full text Add to dashboard Cite

show abstract

“…Early diagnosis through awareness of neurological symptoms may contribute to appropriate treatment and improved prognosis. Although some cases of FHL with diffuse swelling of the cerebellum and associated progression of obstructive hydrocephalus have been reported (5)(6)(7)(8), it is still not well recognized among clinicians. It is a rare but life-threatening condition in which obstructive hydrocephalus occurs as a result of cerebellar swelling.…”

Section: Introductionmentioning

confidence: 99%

Case report: Cerebellar swelling and hydrocephalus in familial hemophagocytic lymphohistiocytosis

et al. 2022

View full text Add to dashboard Cite

Familial hemophagocytic lymphohistiocytosis (FHL) is a severe inborn error of immunity caused by a genetic defect that impairs the function of cytotoxic T and NK cells. There are only a few reported cases of FHL with diffuse swelling of the cerebellum and obstructive hydrocephalus. We report a case of FHL3 with neurological symptoms associated with cerebellar swelling and obstructive hydrocephalus. A male patient was hospitalized several times due to fever and decreased feeding, hepatosplenomegaly, and cytopenia since the first month of life. At 7 months of age, disturbance of consciousness was seen. Brain magnetic resonance imaging revealed signal intensity in the bilateral cerebellar hemispheres, diffusely increased periventricular white matter, and ventriculomegaly. Although he was treated with methylprednisolone pulse therapy, he was unresponsive to the treatment. He was then transferred to a local hospital after tracheotomy but died. Targeted clinical sequencing revealed a homozygous splice-site mutation in UNC13D. Pediatric hemophagocytic lymphohistiocytosis (HLH) includes some cases of central nervous symptom (CNS)-isolated HLH or CNS HLH preceding systemic lesions, which often do not initially meet the diagnostic criteria for FHL. Patients with FHL initiated by cerebellar symptoms may present with an atypical clinical course for HLH, leading to delayed diagnosis and poor outcomes. Despite the usefulness of a combination of a high percentage of lymphocytes in the peripheral leukocytes, a low lactate dehydrogenase level, and a high sIL-2R/ferritin ratio for identifying FHL, the diagnosis may be missed due to the absence of these results. Presymptomatic diagnosis of FHL by screening of newborns and subsequent early treatment of patients with a predicted poor prognosis may contribute to better outcomes.

show abstract

Immune-Mediated Diseases of the Central Nervous System

Bordini

Meyers

et al. 2017

Pediatric Clinics of North America

View full text Add to dashboard Cite

Cerebellar swelling due to familial hemophagocytic lymphohistiocytosis: An unusual presentation

Cited by 4 publications

References 15 publications

MRI Patterns in Pediatric CNS Hemophagocytic Lymphohistiocytosis

MRI Patterns in Pediatric CNS Hemophagocytic Lymphohistiocytosis

Case report: Cerebellar swelling and hydrocephalus in familial hemophagocytic lymphohistiocytosis

Immune-Mediated Diseases of the Central Nervous System

Contact Info

Product

Resources

About