Bilateral arachnoid cysts of the sylvian region in female siblings with glutaric aciduria type I

Jamjoom, Zain Alabedeen B.; Okamoto, Emi; Jamjoom, Abdulhakim B.; Al-Hajery, Osama; Abu-Melha, Abdullah

doi:10.3171/jns.1995.82.6.1078

Cited by 42 publications

(14 citation statements)

References 20 publications

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“…The prominence of the subarachnoid spaces is said generally to resolve in early childhood [9, 11, 12, 13], but the temporal course of this resolution has not been documented in detail. A family history consistent with autosomal dominant transmission is commonly present [11, 14], but prominence of the subarachnoid spaces, with or without macrocephaly, has been described as symptomatic of a variety of conditions, including glutaric acidemia type 1 [15, 16, 17, 18, 19, 20, 21, 22], achondroplasia [23], osteogenesis imperfecta [24, 25], Sotos syndrome [26, 27], Kniest disease [28], congenital myotonic dystrophy [29], occipital plagiocephaly [30], chronic glucocorticoid administration [31, 32]and hypomagnesemia [33]. …”

Section: Introductionmentioning

confidence: 99%

Monozygotic Twins Discordant for External Hydrocephalus

Piatt

2001

Pediatr Neurosurg

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External hydrocephalus (EH) is a transient, developmental condition in infancy characterized by macrocephaly and prominence of the subarachnoid spaces. The cause is unknown, but many patients have a family history consistent with autosomal dominant inheritance. This report describes a pair of monozygotic twins, only one of whom – the recipient of a twin-twin transfusion – has EH. Whatever the genotype of the twins, their discordant phenotypes suggest that the disproportionate calvarial growth that characterizes EH is set in motion – or not – during a limited, critical temporal window in fetal development.

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Section: Introductionmentioning

confidence: 99%

Monozygotic Twins Discordant for External Hydrocephalus

Piatt

2001

Pediatr Neurosurg

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“…The y-axis corresponds to the LOD score and the x-axis represents distance in centimorgans basis for their formation [4, 6-8, 15, 17, 19]. Arachnoid cysts may also be associated with congenital anomalies such as polycystic kidney disease, glutaric aciduria type 1, mental retardation, pachygyria, and chromosome-12 trisomy [2,4,6,8,11]. Most of the reported families have only a few affected individuals who harbor an intracranial arachnoid cyst and are therefore not suitable for genome-wide linkage analysis.…”

Section: Discussionmentioning

confidence: 99%

Intracranial arachnoid cyst family with autosomal recessive trait mapped to chromosome 6q22.31-23.2

et al. 2012

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“…The remaining five patients had infratentorial cysts, of which two were supracollicular, one posterior to the vermis, and two lateral to cerebellar hemisphere. Two sisters in this series had bilateral arachnoid cysts of the sylvian regions associated with glutaric acidura type l. 12 In 18 (72%) patients, the cysts exhibited local pressure effects, predominantly compression of the ipsilateral ventricle with (n=7) or without (n=11) shift of the midline structures. Three patients (one with a suprasellar and two with post-fossa cysts) had associated obstructive hydrocephalus, and in a fourth case, the cyst resulted in sequestration and isolated dilatation of the ipsilateral posterior horn.…”

Section: Methodsmentioning

confidence: 99%

Intracranial Arachnoid Cysts: Treatment Alternatives and Outcome in A Series of 25 Patients

Jamjoom

1997

Ann Saudi Med

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A series of 25 patients with intracranial arachnoid cysts is analyzed retrospectively. There were 14 males and 11 females ranging in age between a few days and 58 (mean 10) years. Seventy-six percent of patients were children below the age of 15 years. Most of the patients presented with symptoms and signs of long-standing raised intracranial pressure, while localizing signs were rather uncommon. The clinical manifestations were often mild relative to the large size of the cyst. Associated hydrocephalus was present in three patients: one with suprasellar cyst and two with posterior fossa cysts. Seven patients with mild symptoms and small cysts were treated conservatively, while the remaining 18 patients underwent surgical treatment. The initial surgical procedure consisted of craniotomy and fenestration of the cyst in three patients, and cystoperitoneal shunting in the other 15. Of the three patients who underwent craniotomy, one improved postoperatively, while the remaining two developed complications consisting of wound infection and postoperative epilepsy in one and permanent severe neurological deficit in the other. In contrast, six of the 15 cysts treated by shunting resolved completely, eight were smaller, and one remained unchanged. Radiological regression of the cyst after shunting was associated with various degrees of clinical improvement in 13 patients (87%). Two (13%) of 15 shunted patients developed complications in the early postoperative period, consisting of wound infection in one and early shunt failure in the other. Three patients (20%) with shunts had late complications during the follow-up period, consisting of recurrent shunt failure in the first, subdural hematoma in the second, and perforation of the peritoneal catheter into the hepatic bile ducts in the third. These findings, as well as recent data from the literature, suggest that in the management of intracranial arachnoid cysts, cystoperitoneal shunting was more effective and had fewer serious complications than craniotomy and cyst fenestration, and therefore, it is recommended as the treatment of first choice. Ann Saudi Med 1997; 17(3) Arachnoid cysts are non-tumorous intra-arachnoid fluid collections that account for about 1% of all intracranial space-occupying lesions.1 They may develop thoughout the cerebrospinal axis, with a predominance in the sylvian region.2,3 Because of their benign nature and slow expansion, arachnoid cysts may remain symptomatic or produce only subtle symptoms and signs. On the other hand, they sometimes give rise to focal neurological deficits, raised intracranial pressure, and/or epileptic seizures. The question of when these lesions should be operated upon is, therefore, not always easy to answer. Moreover, the choice of the most appropriate surgical approach is still debated. 2,[4][5][6][7][8] In the following report, the author describes the clinical and radiological findings in 25 patients with intracranial arachnoid cysts. In addition, the treatment results are analyzed and compared with those publish...

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Bilateral arachnoid cysts of the sylvian region in female siblings with glutaric aciduria type I

Cited by 42 publications

References 20 publications

Monozygotic Twins Discordant for External Hydrocephalus

Monozygotic Twins Discordant for External Hydrocephalus

Intracranial arachnoid cyst family with autosomal recessive trait mapped to chromosome 6q22.31-23.2

Intracranial Arachnoid Cysts: Treatment Alternatives and Outcome in A Series of 25 Patients

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