A dıagnosıs of famılıal multıple lıpomatosıs followıng the fetal dıagnosıs of ıntracranıal lıpoma wıthout corpus callosum Hülya DEDE, Ebru YÜCE, Ayşe KIRBAŞ, Nuri DANIŞMAN Zekai Tahir Burak Women Health Education and Research Hospital

OBJECTIVE To report a case of a fetus with intracranial lipomas with absence of corpus callosum diagnosed in utero by ultrasound and MRI findings and to report a family with 4 cases of familial multiple lipomatosis in 2 generations based on these case

CASE A 19-year old multigravid patient was admitted to our clinic in the 34th week of pregnancy We report a case of intracranial lipoma by obstetric sonography and examined by fetal MR imaging After birth, based on the diagnosis of infant family members were investigated. It was determined that the number of multiple lipomas in the baby’s sister, father and her uncles. The localization of lipomas were various including intracranial, trunk and extremities In this way we reached the diagnosis of familial multiple lipomatosis

Cavum septum pellucidum and corpus callosum was not observed Ventriculomegaly was observed A 15x10x7,5 mm hypointense structure was observed in the midline at the level of foramen Monroe The cerebellar vermis and other posterior fossa structures were normal

Intracranial lipomas occur anywhere in the intracranial space Intracranial lipomas occur anywhere in the intracranial space. The 80–90% of them are located at the midline and mostly in the pericallosal cistern Other locations include the quadrigeminal/ superior cerebellar, suprasellar/interpeduncular, cerebello- pontine angle and sylvian cisterns and rarely cerebral hemispheres Location at the level of the choroid plexus has only rarely been described Intracranial lipomas- a clinical study Nebi Yilmaz, Ozkan Unal, Nejmi Kiymaz, Cahide Yilmaz, Omer Etlik. Clinical Neurology and Neurosurgery 108 (2006) 363–368

The pathogenesis of a pericallosal lipoma is considered to be the result of an abnormal persistence and maldifferentiation of the meninx primitive during the development of the subarachnoid cisterns. These occurs between the 8th and the 10th week of development Therefore, anomalies of the development of the corpus callosum (complete or partial agenesis, hypoplasia) almost always coexist Truwit CL, Barkovich AJ. Pathogenesis of intracranial lipoma: an MR study in 42 patients. AJR Am J Roentgenol 1990;155: 855–865

They are generally benign and asymptomatic but the symptoms of lipomas are differ according to the location of lipoma When symptoms occur, they are frequently the result of coexisting general clinical conditions. Persistent headaches, convulsions, psychomotor retardation and cranial nerve defects may occur Due to associated with anomalies of the corpus callosum, it may be part of specific malformative syndrome. A few cases of lipoma have been found in association with Goldenhar syndrome and trisomy 13, 15, 18, and 21 Lipomas are slow progressing lesions, therefore, even without surgery the prognosis is generally good. Maiuri F, Cirillo S, Simonetti L,
 De Simone MR, Gangemi M (1988) Intracranial lipomas: diagnostic and therapeutic considerations. J Neurosurg Sci 32:161–167

ConclusIon Intracranial lipomas are very rare congenital malformations. They are less than 0.1% of all intracranial tumors Familial multiple lipomatosis is a rare autosomal dominant disorder characterized by numerous encapsulated lipomas on the trunk and extremites (Keskin et al, 2002) A hyperechoic callosal mass together with dysgenesis or agenesis of the corpus callosum is virtually pathognomonic of a lipoma Fetal magnetic resonance may assist sonographic diagnosis particularly in cases of choroid plexus lipoma where a better signal resolution may be achieved Careful radiologic evaluation is necessary to evaluate associated pathologies Now, the baby is 1,5 years old and at follow-up, there are no symptoms in both the baby and family members