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| Discussion |
Case Report:
A six-month-old male child comes with reddish discolouration of the right side of face in the form of red punctate areas over right lateral canthus, temple, posterior auricular region & occipital region with minmal fullness in the suboccipital region on crying.
There is also minimal decrease in size of right palpebral fissure.
On examination, multiple punctate red areas in above mentioned regions which are non - tender, non – pulsatile were seen.
The suboccipital swellng was soft, compressible and non-pulsatile.
No cardiac anomaly was noted. No sternal was seen. cleft.
Clinical photographs are shown below:
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Fig. 1 |
Fig. 2 |
CT SCAN:
Axial image
Axial CT brain shows marked cerebellar hypoplasia and prominent cisterna magna
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Fig. 3 |
MRI IMAGES
T2 AXIAL
Transverse fast spin-echo T2-weighted MR image of the posterior fossa shows marked cerebellar hypoplasia -more on the right side with associated ex-vacuo dilatation of the fourth ventricle and prominent cisterna magna
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Fig. 4a |
T2 CORONAL
Coronal fast spin-echo T2-weighted MR image of the posterior fossa shows marked cerebellar hypoplasia -more on the right side with associated ex vacuo dilatation of the fourth ventricle and prominent cisterna magna
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Fig. 4b |
T2 coronal
Right orbital and periorbital hemangioma with retrobulbar extension is also seen .
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Fig. 5a |
T2 AXIAL
Hemangiomatous lesion in right posterior neck spaces is seen
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Fig. 5b |
Right CCA angiogram shows Internal carotid artery agenesis. Right Ascending pharyngeal artery is reforming ICA through the tympanic branch. The suboccipital hemangioma seen.
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Fig. 6 |
Right vertebral angiogram shows an ectatic Basilar artery, hypertrophied left PCA and left PCoA which is reforming left ICA. . A haemangiomatous blush is seen in the suboccipital region.
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Fig. 7a |
Fig. 7b |
Left CCA angiogram shows agenesis left ICA with multiple hemangiomas.
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Fig. 8a |
Fig. 8b |
DIAGNOSIS : PHACE SYDROME
P- Posterior Fossa Malformations
H - Hemangioma
A - Arterial Anomalies
C - Cardiac abnormalities/aortic coartation
E - Eye Abnormalities
(S)- Sternal cleft defects
PHACES is a rare, congenital, syndromal pediatric disorder and has a broad spectrum of clinical manifestations.
It was described by Frieden and colleagues.
Although the hallmark of PHACES is the large "plaque-like" facial hemangioma, the spectrum of associated clinical findings may be complete or incomplete. Most patients display only one or two extracutaneous manifestations.
The pattern of inheritance has not been established yet.
There is a striking female predominance with F:M ratio of 9:1.
Hemangiomas are the most common benign tumors in infants, occurring in up to 10% of children younger than 1 year. Hemangiomas occur most commonly in white children, girls and premature infants. The average age ranges from 0-3 years.
In the classification system of vascular anomalies proposed by Mulliken and Glowacki, hemangiomas are tumors that consist of proliferative endothelial cells as opposed to vascular malformations (such as arteriovenous fistulas).They have a predictable clinical course that includes rapid growth in the 1st year of life ( proliferative phase) followed by regression from 1 to 7 years of age (involuting phase)
The MR imaging appearance of hemangiomas is dependent on the evolutionary phase .Proliferative lesions are well-defined, lobulated, intensely enhancing soft-tissue masses that are isointense to muscle on T1-weighted images, are hyperintense to muscle on T2-weighted images, and contain internal flow voids. Gradual replacement by fat occurs during the involuting phase.
The V1 segment of the fifth cranial nerve is the most commonly affected dermatome in PHACES syndrome. However more than one segments may be involved ; like in our case.
Associated structural brain anomalies include Dandy-Walker malformation (most common) and hypoplasia or agenesis of the corpus callosum and cerebellum. Posterior cranial fossa malformations are present in 32-74% of patients.
The posterior fossa cystic malformation points to the 3rd-4th week of development. Cortical dysplasia may also be associated with intracranial posterior fossa hemangiomas.
The cerebellar hemisphere hypoplasia is typically ipsilateral to the facial hemangioma as in our case.
Arterial anomalies include 4 types: Agenesis of major cervical vessels (carotid and vertebral), intracranial internal carotid artery and central branch stenoses, persistence of primitive embryonic channels (eg, persistent trigeminal artery)and dolichoectatic type of arterial segments. It has been postulated that the different forms of arterial involvement in PHACES syndrome constitute various phenotypes related to plurisegmental abnormal development of the neural crest involved in the dorsal aorta and cerebrofacial arterial structures.
In our case there was agenesis of both ICAs and ectasia of basilar artery.
Cardiac and aortic anomalies include right sided aorta, pulmonary stenosis, ventricular septal defects, patent ductus arteriosus, and aortic coarctation. Coarctation of the aorta is the most common cardiac and aortic anomaly.
Ophthalmologic findings include colobomas, arcus corneae, optic nerve hypoplasia, increased retinal vascularity, bilateral retinal hyperemia, and Horner syndrome.
Sternal clefting , which is a less common anomaly, may also occur; in this case, the acronym PHACES has been used to describe the condition. Various ventral developmental defects like sternal clefting, sternal pits and supra-abdominal raphe have been noted in 7% of cases.
In our case there were no cardiac, ophthalmic or sternal anamolies.