A case of macrocephaly-cutis marmorata telangiectatica congenita and review of neuroradiologic features

Annales de Génétique 47 (2004) 261–265 www.elsevier.com/locate/anngen

Case Report

A case of macrocephaly-cutis marmorata telangiectatica congenita and review of neuroradiologic features Nevbahar Akcar a,*, Baki Adapinar a, Cagri Dinleyici b, Beyhan Durak c, I. Ragıp Özkan a a

Department of Radiology, Osmangazi University Hospital Meselik, 26480 Eskisehir, Turkey Department of Pediatry, Osmangazi University Hospital Meselik, 26480 Eskisehir, Turkey c Department of Medical Genetics, Osmangazi University Hospital Meselik, 26480 Eskisehir, Turkey b

Received 12 December 2003; accepted 25 March 2004 Available online 22 April 2004

Abstract Macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) is characterized by macrocephaly, cutis marmorata, capillary malformations, toe syndactily, joint laxity and pre-natal overgrowth. Cerebral abnormalities might also be seen. We reported cerebral magnetic resonance imaging (MRI) findings of a case with M-CMTC, who had giant atrial septal aneurysm and atrial septal defect. Cerebral alterations determined by MRI were bilateral prominent lateral ventricles, bilateral cortical dysplasia, cavum septi pellucidum cyst and calvarial hemangioma. At 17th day of his life he suddenly developed cardiorespiratory arrest and died. © 2004 Elsevier SAS. All rights reserved. Keywords: Macrocephaly-cutis marmorata telangiectatica congenita; Cutis marmorata telangiectatica congenita; Cerebral magnetic resonance imaging

1. Introduction Cutis marmorata telangiectatica congenita (CMTC) is characterized by localized or diffuse reticulated skin appearance caused by prominent capillaries and veins. Other vascular lesions such as telangiectasia, phlebectasia, capillary and cavernous hemangioma, nevus flammeus, and varicose veins might also be seen [1,10]. Moore et al. [10] and * Corresponding author. Tel./fax: +90-222-239-0087. E-mail address: [email protected] (N. Akcar). © 2004 Elsevier SAS. All rights reserved. doi:10.1016/j.anngen.2004.03.003

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Clayton-Smith et al. [3] defined macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) as a clinical entity distinct from the CMTC. There are reports of 35 patients with M-CMTC in the literature [3,10,12,13,15]. One more case has also been defined resembling M-CMTC [8]. Congenital or acquired cerebral abnormalities might be seen in CMTC and M-CMTC. Ventriculomegaly, lumbar syrinx, Chiari type I, bifrontal extraaxial fluid collections, corpus callosum agenesis, vascular anomaly, neuronal migration defect, cavum septi pellucidum and vergae are congenital abnormalities. Acquired ones are nonobstructive hydrocephalus, infarct, atrophy, hydrops or atrophy of the optic nerve and delayed myelinization [1–7,10,11,14,15]. There are only a few reports about the cerebral magnetic resonance imaging (MRI) of the syndrome. We reported cerebral MRI findings of a case with M-CMTC, who had atrial septal defect and giant atrial septal aneurysm and reviewed the literature about CMTC and M-CMTC.

2. Case report A boy was third child of nonconsanguineous healthy parents with two normal siblings. The mother was 35 years old. At birth his weight was 4550 g (>95th centile) (height 50 cm, head circumference 41 cm). He was born at term with Apgar score of 3/6 by caesarean section without complication. Craniofacial manifestations were macrocephaly, frontal bossing, nevus flammeus at the philtrum, and hemangioma on the frontoparietal region. There were bilateral cutaneous syndactily between second and third toes and a wide space between first and second toe. He had hypotonia, hypothermia, central cyanosis, tachycardia, tacypnea and respiratory acidosis. Chest radiography showed pulmonary infiltrates and cardiomegaly. On echocardiography giant atrial aneurysm and atrial septal defect was determined. While abdominal ultrasonography showed no abnormality, prominent lateral ventricles and cavum septi pellucidum cyst was seen by transfontanel ultrasonography. On cerebral MRI there were bilateral prominent lateral ventricles, cortical dysplasia (polymicrogyria–pachygyria), cavum septi pellucidum cyst and calvarial hemangioma (Fig. 1). At 17th day he suddenly developed cardiorespiratory arrest and died.

3. Discussion M-CMTC comprises CMTC, congenital macrocephaly together with pre- and post-natal macrosomia, segmental overgrowth, central nervous system malformations, connective tissue abnormalities and intellectual handicap [3,5,8,10,11,15]. It has been reported that macrocephaly, CMTC, syndactily and joint laxity were present in almost all of the cases with M-CMTC [3,9,10]. Franceschini et al. [5] suggested that this syndrome should be diagnosed when there was macrocephaly and at least two of the main reported findings, i.e. overgrowth, cutis marmorata, angiomata, polydactyly/syndactyly, asymmetry [5]. Although most of them are developmentally delayed, major clinical problems are very rare. Congenital heart defect, intractable arrhythmia, sudden death, and severe post-natal growth failure were reported to be reason of death in four cases [3,15]. The present case, who had

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Fig. 1. Axial T2-weighted (TR 6000, TE 90, Turbo Spin Echo) cerebral MRI scan of the patient shows bilateral frontal polymicrogyria. There is widening and increased hyperintensity of the diploic space at the right frontoparietal region related to the hemangioma.

atrial septal defect and giant atrial aneurysm, also showed bad prognosis. There are no prognostic factors revealed in the comparative series [1]. Although etiological factor is unclear, because of some overlapping features and clinical similarities to the Klippel– Trenaunay–Weber and Sturge–Weber syndromes with CMTC, it has been suggested that these three entities should be classified as a group of vascular diseases associated with other developmental defects of the mesodermal and ectodermal system during embryonic life [4]. MRI is one of the most accurate method in detection of certain cerebral abnormalities which are seen more commonly in M-CMTC than in CMTC [6]. The most common finding appears to be nonobstructive hydrocephalus reported in approximately 22 patients (Table 1). Some authors suggested that the tendency to develop nonobstructive hydrocephalus was an important clue for the diagnosis of this syndrome in doubtful cases [5]. Moore et al. [10], Clayton-Smith et al. [3] and Gerritsen et al. [6] defined hydrocephalus in 22–78% of patients [3,7,10]. But in Devillers’ et al. [4] study including 35 cases with CMTC there was only one patient with hydrocephalus [4]. While cerebral atrophy was defined in three cases, focal infarcts and ischemic changes were reported in four patients [4,5,7,10,14]. Neither of these abnormalities was present in our case. Gruppo et al. [7] defined diffuse cerebrovascular infarcts in a patient at 7 months of age. They demonstrated moyamoya-like vascular abnormalities in addition to the factor V Leiden mutation in the patient. We thought that progressive changes in the cerebral vasculature, as in moyamoya

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Table 1 Neuroradiological findings in patients with CMTC or M-CMTC syndrome in different studies

Number of cases Ventriculomegaly Nonobstructive H Extraaxial fluid collection Delayed myelinization Corpus callosum agenesis Chiari type I CSPV Atrophy Infarct or porencephaly Optic nerve A/H Vascular anomaly Neuron migration defect

CMTC Devill4 35

Gerits6 18

1

4

Amitai1 85

Wrobl14 1

Gruppo7 1

1

M-C MTC Moore10 Clyton3 13 9 1 8 7

Total Charc2 1

Franc5 2

Yano15 3 3

Rober11 1

1 1 1

1

2 1

2

4 3 3 4 2 1 1

1

1

1 1

1

1 1

1 2 1 1 1

1 1 1 1

1

H, hydrocephalus; CSPV, Cavum septi pellucidum–vergae; A/H, atrophy or hydrops. a Name of the some authors shortened.

169 4 22 1

1

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Authors a

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disease, might cause multiple small ischemic areas along with evidence of cerebral atrophy in these syndromes. Congenital ventriculomegaly, seen in four patients, was present in our case, too. It was pointed out that ventriculomegaly was not the primary cause of macrocephaly [5,10]. Cerebral vascular malformations, cortical dysplasia, corpus callosum agenesis, cavum septi pellucidum and vergae might also be seen [1,5,10,14]. Cavum septi pellucidum and vergae was reported in three cases with M-CMTC. In the present case cavum septi pellucidum cyst was determined. On MRI of the patient we also detected bilateral frontal polymicrogyria–pachygyria. After the review of the literature we noticed neuronal migration defect only in one patient with M-CMTC [11]. The calvarial thickening on the right frontoparietal region of the present case was related to the hemangioma. Although hemangioma is one of the most common abnormalities in CMTC [1], calvarial localization was not described before.

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