scholarly journals PHACE Syndrome: Persistent Fetal Vascular Anomalies

2005 ◽  
Vol 11 (4) ◽  
pp. 355-361 ◽  
Author(s):  
V. Prochazka ◽  
T. Hrbac ◽  
J. Chmelova ◽  
D. Skoloudik ◽  
M. Prochazka
Keyword(s):  
Posterior Fossa ◽  
Posterior Cranial Fossa ◽  
Vascular Anomalies ◽  
Cardiac Defects ◽  
Phace Syndrome ◽  
Cranial Fossa ◽  
Arterial Anomalies

PHACE(S) syndrome is an acronym for neurocutaneous disease encompassing the expression of (P) posterior cranial fossa malformations, (H) facial haemangiomas, (A) arterial anomalies, (C) aortic coarctaion and other cardiac defects, (E) eye abnormalities and (S) for sternal malformation or stenotic arterial diseases. We report on a case of PHACE syndrome complete expression with persistent fetal vascular anomalies unusually in a 55-year-old women with large bilateral facial and neck haemangioma and posterior fossa circulation insufficiency.

scholarly journals Two Cases of Oculofaciocardiodental (OFCD) Syndrome due to X-Linked BCOR Mutations Presenting with Infantile Hemangiomas: Phenotypic Overlap with PHACE Syndrome

2019 ◽  
Vol 2019 ◽  
pp. 1-8
Author(s):  
T. M. Morgan ◽  
J. M. Colazo ◽  
L. Duncan ◽  
R. Hamid ◽  
K. M. Joos
Keyword(s):  
Genetic Testing ◽  
Posterior Fossa ◽  
Case Reports ◽  
Infantile Hemangioma ◽  
Cardiac Defects ◽  
Case Presentation ◽  
Female Patients ◽  
Phace Syndrome ◽  
Diagnostic Criterion ◽  
Arterial Anomalies

Background. Oculofaciocardiodental (OFCD) syndrome is due to mutations in BCOR (BCL-6 corepressor). OFCD has phenotypic overlaps with PHACE syndrome (Posterior fossa anomalies, Hemangioma, Arterial anomalies, Cardiac defects, Eye anomalies). Infantile hemangiomas are a key diagnostic criterion for PHACE, but not for OFCD. A previous study reported two cases of infantile hemangiomas in OFCD, but the authors could not exclude chance association. Case Presentation. We describe two novel cases of female patients (one initially diagnosed with PHACE syndrome), both of whom had infantile hemangiomas. Ophthalmological findings were consistent with oculofaciocardiodental (OFCD) syndrome. Upon genetic testing, these two females were determined to have X-linked BCOR mutations confirming OFCD syndrome diagnoses. Conclusion. These case reports add support to the hypothesis that infantile hemangiomas may be a feature of OFCD. BCOR may potentially be within a pathway of genes involved in PHACE syndrome and/or in infantile hemangioma formation.

Endocrine manifestations of PHACE syndrome

2019 ◽  
Vol 32 (8) ◽  
pp. 797-802 ◽  
Author(s):  
Chansuda Bongsebandhu-phubhakdi ◽  
Therdpong Tempark ◽  
Vichit Supornsilpchai
Keyword(s):  
Posterior Fossa ◽  
Ectopic Thyroid ◽  
Cardiac Defects ◽  
Thyroid Dysgenesis ◽  
Presenting Symptoms ◽  
Phace Syndrome ◽  
Pituitary Dysfunction ◽  
Hormonal Treatments ◽  
Arterial Anomalies

Abstract PHACE syndrome is an uncommon disorder of posterior fossa anomalies, cervicofacial infantile hemangiomas, arterial anomalies, cardiac defects, eye anomalies, and midline/ventral defects. Endocrine abnormalities including hypopituitarism and ectopic thyroid were rarely described. In this article we review occurrence, onset, presenting symptoms, hormonal treatments and outcomes of all endocrine abnormalities in PHACE syndrome. Eleven of 20 (55%) had hypothalamic-pituitary dysfunction and 10 of 20 (50%) had thyroid dysgenesis. A thorough understanding of the endocrine manifestations is important for clinicians to early identify endocrine involvement in PHACE and develop plans for monitoring and treatment of its complications.

PHACES: a neurocutaneous syndrome with anomalies of the aorta and supraaortic vessels

2004 ◽  
Vol 14 (2) ◽  
pp. 206-209 ◽  
Author(s):  
Gerald Wendelin ◽  
Erwin Kitzmüller ◽  
Ulrike Salzer-Muhar
Keyword(s):  
Aortic Arch ◽  
Posterior Fossa ◽  
Coarctation Of The Aorta ◽  
Cardiac Defects ◽  
Vascular Abnormalities ◽  
Great Vessels ◽  
Neurocutaneous Syndrome ◽  
The Brain ◽  
Supraaortic Vessels ◽  
Arterial Anomalies

The acronym PHACES summarizes the most important manifestations of a rare neurocutaneous syndrome. Specifically, “P” accounts for malformation of the brain in the region of the posterior fossa, “H” stands for haemangiomas, “A” is for arterial anomalies, and “C” is for coarctation of the aorta along with cardiac defects, “E” is for abnormalities of the eye, and “S” for clefting of the sternum, and/or a supraumbilical abdominal raphe. Our objective is to introduce the syndrome to paediatric cardiologists. Our patient has stenosis of the aortic arch, multiple malformations of the great vessels arising from the aortic arch, intracranial vascular abnormalities, a sternal malformation with a supraumbilical raphe, and facial haemangiomas. We stress that it is important always to consider the existence of this syndrome in all patients with facial haemangiomas.

scholarly journals Inion Not a Reliable Landmark of the Torcula in Posterior Fossa Craniotomies

2020 ◽  
Vol 17 (3) ◽  
pp. 103-105
Author(s):  
Elisha Harry Otieno ◽  
Philip Mwachaka ◽  
Paul Odula ◽  
Isaac Cheruiyot ◽  
Jeremiah Munguti
Keyword(s):  
Posterior Fossa ◽  
Posterior Cranial Fossa ◽  
Burr Hole ◽  
Surgical Approaches ◽  
Iatrogenic Injuries ◽  
Cranial Fossa

Background: Sub-occipital craniotomies are used in surgical approaches into the posterior cranial fossa. The inion is used as an extracranial landmark of the torcula in burr hole placement. However, inadvertent damage to the torcula and the related sinuses due to variant intracranial location of the torcula has been reported. This study aimed at determining the position of the torcula in relation to the inion. Method: 40 adult open skulls were obtained and the positional relationship between the inion and the torcula assessed. Results: The torcula was at the same level with the inion in half of the cases (50%), below it in 12 cases (30%), and above in 8 cases (20%). The position above the inion ranged from 0.38 to 2.40 cm and below it from 0.75 to 2.45 cm. Conclusion: The torcula lies either at the level of the inion in only half of the cases. The surgeon should augment this physical landmark with radiographs to avoid iatrogenic injuries. Keywords: Inion, Posterior fossa, Craniotomies

Patterns for Differentiation of Posterior Fossa Neoplasms as Detected by Brain Scans

1970 ◽  
Vol 09 (04) ◽  
pp. 303-316
Author(s):  
Frank DeLand ◽  
A. EveretteJames ◽  
Henry Wagner
Keyword(s):  
Skull Base ◽  
Posterior Fossa ◽  
Cerebellopontine Angle ◽  
Lateral View ◽  
Posterior Cranial Fossa ◽  
Anatomical Location ◽  
Posterior View ◽  
Brain Scans ◽  
Histological Characteristics ◽  
Cranial Fossa

SummaryThe histological characteristics of neoplasms that occur in the posterior cranial fossa can often be predicted by a knowledge of the patient’s age and the specific anatomical location of the tumor. Dividing the posterior fossa into midline, cerebellar fossa and cerebellopontine angle provides a scheme to characterize abnormal accumulations of radioactivity according to their anatomical locations. Midline lesions arise from bases activity on the lateral view and are in the midline on the posterior view. Lesions of the cerebellar fossa may be adjacent to but do not appear to arise from the basal structures and are not in the midline. Cerebellopontine angle tumors are adjacent to and appear to arise from the normal radioactivity at the skull base but lie lateral to the midline. The expected distribution of histological types of neoplasms in each area according to age are discussed.

Volumetric analysis of the posterior cranial fossa in a family with four generations of the Chiari malformation Type I

2008 ◽  
Vol 1 (1) ◽  
pp. 21-24 ◽  
Author(s):  
R. Shane Tubbs ◽  
Mark Hill ◽  
Marios Loukas ◽  
Mohammadali M. Shoja ◽  
W. Jerry Oakes
Keyword(s):  
Posterior Fossa ◽  
Chiari Malformation ◽  
Familial Aggregation ◽  
Volumetric Analysis ◽  
Posterior Cranial Fossa ◽  
Preoperative Imaging ◽  
Type I ◽  
Chiari Malformation Type I ◽  
Hindbrain Herniation ◽  
Cranial Fossa

Object Many authors have concluded that the Chiari malformation Type I (CM-I) is due to a smaller than normal posterior cranial fossa. In order to establish this smaller geometry as the cause of hindbrain herniation in a family, the authors of this paper performed volumetric analysis in a family found to have this malformation documented in 4 generations. Methods Members from this family found to have a CM-I by imaging underwent volumetric analysis of their posterior cranial fossa using the Cavalieri method. Results No member of this family found to have CM-I on preoperative imaging had a posterior fossa that was significantly smaller than that of age-matched controls. Conclusions The results of this study demonstrate that not all patients with a CM-I will have a reduced posterior cranial fossa volume. Although the mechanism for the development of hindbrain herniation in this cohort is unknown, this manifestation can be seen in multiple generations of a familial aggregation with normal posterior fossa capacity.

Pathogenesis of Chiari malformation: a morphometric study of the posterior cranial fossa

1997 ◽  
Vol 86 (1) ◽  
pp. 40-47 ◽  
Author(s):  
Misao Nishikawa ◽  
Hiroaki Sakamoto ◽  
Akira Hakuba ◽  
Naruhiko Nakanishi ◽  
Yuichi Inoue
Keyword(s):  
Posterior Fossa ◽  
Medulla Oblongata ◽  
Chiari Malformation ◽  
Volume Ratio ◽  
Basilar Invagination ◽  
Posterior Cranial Fossa ◽  
Control Group ◽  
Adult Type ◽  
Content Type ◽  
Cranial Fossa

✓ To investigate overcrowding in the posterior cranial fossa as the pathogenesis of adult-type Chiari malformation, the authors studied the morphology of the brainstem and cerebellum within the posterior cranial fossa (neural structures consisting of the midbrain, pons, cerebellum, and medulla oblongata) as well as the base of the skull while taking into consideration their embryological development. Thirty patients with Chiari malformation and 50 normal control subjects were prospectively studied using neuroimaging. To estimate overcrowding, the authors used a “volume ratio” in which volume of the posterior fossa brain (consisting of the midbrain, pons, cerebellum, and medulla oblongata within the posterior cranial fossa) was placed in a ratio with the volume of the posterior fossa cranium encircled by bony and tentorial structures. Compared to the control group, in the Chiari group there was a significantly larger volume ratio, the two occipital enchondral parts (the exocciput and supraocciput) were significantly smaller, and the tentorium was pronouncedly steeper. There was no significant difference in the posterior fossa brain volume or in the axial lengths of the hindbrain (the brainstem and cerebellum). In six patients with basilar invagination the medulla oblongata was herniated, all three occipital enchondral parts (the basiocciput, exocciput, and supraocciput) were significantly smaller than in the control group, and the volume ratio was significantly larger than that in the Chiari group without basilar invagination. These results suggest that in adult-type Chiari malformation an underdeveloped occipital bone, possibly due to underdevelopment of the occipital somite originating from the paraxial mesoderm, induces overcrowding in the posterior cranial fossa, which contains the normally developed hindbrain. Basilar invagination is associated with a more severe downward herniation of the hindbrain due to the more severely underdeveloped occipital enchondrium, which further exacerbates overcrowding of the posterior cranial fossa.

scholarly journals Posterior vault “free-floating” bone flap: indications, technique, advantages, and drawbacks

2021 ◽  
Author(s):  
Gianpiero Tamburrini ◽  
Martina Offi ◽  
Luca Massimi ◽  
Paolo Frassanito ◽  
Federico Bianchi
Keyword(s):  
Posterior Fossa ◽  
Surgical Management ◽  
Distraction Osteogenesis ◽  
Honeycomb Structure ◽  
Posterior Cranial Fossa ◽  
Bone Flap ◽  
Intracranial Volume ◽  
Review Of The Literature ◽  
Management Options ◽  
Cranial Fossa

Abstract Background The enlargement of the posterior cranial fossa volume is considered one of the main steps of the surgical management of children with multiple sutures craniosynostosis. Different management options have been proposed including fixed expansive craniotomy, free bone flap craniotomy, and distraction osteogenesis. Objectives To review indications to “free bone flap” craniotomy for the posterior fossa expansion, detailing advantages, disadvantages, and complications related to the technique. Results and conclusions A review of the literature shows that “free bone flap” posterior expansion cranioplasty still has a role, particularly in infants with thin and “honeycomb” structure of the bone, allowing to gain adequate intracranial volume increases and to postpone to a more adequate time surgery aimed at anterior cranial fossa expansion.

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