Monozygotic Twins Discordant for External Hydrocephalus

Piatt, Joseph H.

doi:10.1159/000050423

Cited by 7 publications

(5 citation statements)

References 20 publications

(18 reference statements)

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“…Proposals include obstruction of the CSF flow at the level of the arachnoid villi [9], delayed frontal lobe development [10] and inappropriate skull versus brain growth [11,12]. In our population, we noted a male predominance, as has been seen in other series.…”

Section: Discussionsupporting

confidence: 66%

Long-Term Health Status in Benign External Hydrocephalus

et al. 2011

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Purpose: Benign external hydrocephalus (BEH) is characterized by excess cerebrospinal fluid in the frontal subarachnoid spaces in infants evaluated for macrocephaly. We sought to describe the natural history of this disorder, specifically its clinical presentation, disease course and long-term health status impact using the validated, disease-specific Hydrocephalus Outcome Questionnaire (HOQ). Methods: An inception cohort of children >5 and <18 years old, with a history of BEH was assembled by ICD-9 and a key word search of medical and radiology records. Review confirmed the diagnosis of BEH, excluded major medical comorbidities and assessed presentation, radiographic features and head size/growth velocity. The HOQ was administered by mail. Results: We identified 99 patients, 5–12 years old (55% males). Twenty were born prematurely, 12 with <33 weeks gestation. Children presented at an average age of 9 ± 4.8 months (mean ± SD). The presenting complaint was macrocephaly in 65 cases. Other presenting findings were positional head shape deformity and torticollis; 10% had a family history of macrocephaly. Developmental delay was present in 21% of patients (4% verbal, 20% gross motor, 4% fine motor delay). Four patients had small subdural hematomas, none with suspicion of a non-accidental trauma. During clinical reassessment over a mean follow-up of 13 months, the average head percentile was stable and none of the patients developed new subdural hematomas. Gross motor delay resolved in 15/20 and fine motor delay in 4/4 patients. Verbal delay resolved in 2/4 patients, but interestingly, was newly detected in 6 other children. None of the patients required cerebrospinal fluid shunting. The response rate to the HOQ was 25% (median age 7 years, 74% females). The average overall HOQ score was 0.75 ± 0.24 versus 0.68 ± 0.19 for a previously published cohort of shunted hydrocephalic children. Conclusions: BEH patients in this series generally saw resolution of presenting motor developmental delays; however, new verbal delays were detected in a non-trivial number of patients. Quality of life measurements suggest some reduction in health status, but less so than is seen with shunted hydrocephalus.

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Section: Discussionsupporting

confidence: 66%

Long-Term Health Status in Benign External Hydrocephalus

et al. 2011

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“…The dominant inheritance might be due to a single gene exhibiting a major effect as part of a multifactorial phenomenon in some families [166], probably during a limited time of susceptibility in fetal development [134]. Maytal et al suggested that the primary phenotype merely was the delayed maturation of the arachnoid villi [110].…”

Section: Resultsmentioning

confidence: 99%

“…Some have even suggested that the skull is growing faster than the brain for some time, giving a transient subarachnoid CSF accumulation [124, 134]. …”

Section: Resultsmentioning

confidence: 99%

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Benign external hydrocephalus: a review, with emphasis on management

et al. 2011

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Benign external hydrocephalus in infants, characterized by macrocephaly and typical neuroimaging findings, is considered as a self-limiting condition and is therefore rarely treated. This review concerns all aspects of this condition: etiology, neuroimaging, symptoms and clinical findings, treatment, and outcome, with emphasis on management. The review is based on a systematic search in the Pubmed and Web of Science databases. The search covered various forms of hydrocephalus, extracerebral fluid, and macrocephaly. Studies reporting small children with idiopathic external hydrocephalus were included, mostly focusing on the studies reporting a long-term outcome. A total of 147 studies are included, the majority however with a limited methodological quality. Several theories regarding pathophysiology and various symptoms, signs, and clinical findings underscore the heterogeneity of the condition. Neuroimaging is important in the differentiation between external hydrocephalus and similar conditions. A transient delay of psychomotor development is commonly seen during childhood. A long-term outcome is scarcely reported, and the results are varying. Although most children with external hydrocephalus seem to do well both initially and in the long term, a substantial number of patients show temporary or permanent psychomotor delay. To verify that this truly is a benign condition, we suggest that future research on external hydrocephalus should focus on the long-term effects of surgical treatment as opposed to conservative management.

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“…Other authors hypothesized that the underlying cause is a cephalocranial disproportion [ 31 ]. Lastly, subarachnomegaly has also been contemplated to be caused by a developmental disturbance of inadequate skull growth in relation to brain growth [ 32 ]. The most commonly cited immature arachnoid villi theory hypothesizes that a failure in CSF absorption would lead to dilation of cortical subarachnoid spaces because of a reabsorption deficit from the subarachnoid spaces.…”

Section: Pathophysiologymentioning

confidence: 99%

Subarachnomegaly—venous congestion of infancy

Sainz

Schuhmann²

2021

Childs Nerv Syst

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Purpose Multiple names within the literature refer to a clinical picture affecting infants and consisting of a large or fast growing head circumference with enlarged cortical subarachnoid spaces (CSAS) while cranial sutures are open. This myriad of terms demonstrates the confusion about the entity, that may even group together different etiological processes. In this review, we aim to shed light on this matter in an effort to restate the defining features of the clinical picture and sum the evidence and current understanding of its pathophysiology and related imaging findings. Methods Extensive and updated review of the literature with special focus on defining features, clinical history with long term evaluation and pathophysiological process. Results Functional and molecular CSF studies as well as clinical evidence challenges the common pathophysiological theory based on non-functional arachnoid villi. Conversely, there is increasing evidence supporting cerebro-venous system abnormalities as the main pathophysiological factor. Additionally, long term cohorts studies show that it may have subtle but irreversible neurodevelopmental consequences. Conclusion Subarachnomegaly is an age-related condition of the infancy with radiological enlargement of CSAS and often self limiting course. However, considering the evidence on pathophysiology as outlined herein and long term outcome reports, further research effort is needed to assess the consequences of venous outflow impairment and enlarged CSAS and how this relates to imaging findings and neurodevelopment test results later in life

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Monozygotic Twins Discordant for External Hydrocephalus

Cited by 7 publications

References 20 publications

Long-Term Health Status in Benign External Hydrocephalus

Long-Term Health Status in Benign External Hydrocephalus

Benign external hydrocephalus: a review, with emphasis on management

Subarachnomegaly—venous congestion of infancy

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