Macrocephaly and right arm disuse in a 7-month-old boy

Abstract

B.Desmoplastic infantile ganglioglioma The patient underwent gross total resection, and final pathology was consistent with desmoplastic infantile ganglioglioma (DIG). Intraoperatively, the tumor body was firmly attached to the dura and had an associated cystic nodule (Fig. 2A). Pathological examination of the specimen demonstrated tumor mainly in the leptomeninges, which was well-demarcated from the adjacent brain (Fig. 2B). The leptomeningeal component consisted primarily of desmoplastic areas and scattered foci with different cell types. Mitotic figures were very rare and only very minimal necrosis was visualized. The adjacent brain demonstrated mainly perivascular infiltrate, with few individual tumor cells infiltrating the cortex. Accordingly, the Ki-67 immunolabeling was low (1–5%). As the patient underwent gross total surgical resection (Fig. 2C, D) with no residual enhancement on MRI (Fig. 2E), no further adjuvant therapy was necessary. DIG is a very rare childhood tumor almost always presenting before 2 years of age [[1]Tamburrini G. Colosimo Jr., C. Giangaspero F. et al.Desmoplastic infantile ganglioglioma.Child’s Nerv Syst: ChNS. 2003; 19: 292-297Crossref PubMed Scopus (72) Google Scholar]. Its etiology is unknown, although is likely prenatal in origin. Common presenting signs and symptoms include macrocephaly, hemiparesis, and/or signs of elevated intracranial pressure [[2]Blount J.P. Bauer D.F. Desmoplastic infantile gangliogliomas.in: Tonn J.-C. Westphal M. Rutka J.T. Oncology of CNS Tumors. Springer, Berlin Heidelberg2010: 477-481Crossref Scopus (2) Google Scholar]. CT scan and MRI demonstrate an aggressive-appearing tumor, which can appear similar to primitive neuroectodermal tumors, atypical teratoid/rhabdoid tumors, pleomorphic xanthoastrocytoma, or ganglioglioma [[3]Alexiou G.A. Stefanaki K. Sfakianos G. et al.Desmoplastic infantile ganglioglioma: a report of 2 cases and a review of the literature.Pediatr Neurosurg. 2008; 44: 422-425Crossref PubMed Scopus (22) Google Scholar]; therefore the diagnosis cannot definitively be made with imaging alone. The mainstay of treatment is surgical resection, which is considered curative [[1]Tamburrini G. Colosimo Jr., C. Giangaspero F. et al.Desmoplastic infantile ganglioglioma.Child’s Nerv Syst: ChNS. 2003; 19: 292-297Crossref PubMed Scopus (72) Google Scholar]. Chemotherapy is reserved for cases of brain invasion, or when partial resection is followed by radiographic evidence of non-operable disease progression. Radiotherapy may be used as a last resort in children over 5 years of age when other approaches have failed. The prognosis of both complete and partially resected DIG is excellent. Partial resection is often followed by disease stability or spontaneous regression, with a median disease-free survival of 8 to 30 years reported [[3]Alexiou G.A. Stefanaki K. Sfakianos G. et al.Desmoplastic infantile ganglioglioma: a report of 2 cases and a review of the literature.Pediatr Neurosurg. 2008; 44: 422-425Crossref PubMed Scopus (22) Google Scholar]. There are rare reports of local recurrence and/or metastasis, usually associated with deep-seated, particularly suprasellar tumor locations. Surveillance MRIs are generally recommended until stable disease has persisted for some time. Lifetime surveillance does not appear to be necessary as there are no reports of long-term recurrence [[2]Blount J.P. Bauer D.F. Desmoplastic infantile gangliogliomas.in: Tonn J.-C. Westphal M. Rutka J.T. Oncology of CNS Tumors. Springer, Berlin Heidelberg2010: 477-481Crossref Scopus (2) Google Scholar]. Macrocephaly and right arm disuse in a 7-month-old boyJournal of Clinical NeuroscienceVol. 34PreviewA 7-month-old boy presented with macrocephaly (head circumference of 52 cm, 2.5 standard deviations above the 98th percentile). An examination of his cranial contour demonstrated prominent dilated scalp vessels, an elevated and full anterior fontanelle, and mild splaying of the coronal and sagittal sutures. He maintained his right hand in a fisted position, and would not reach towards objects or faces with his right hand; his right upper extremity was also significantly hypertonic. A neurological examination of his cranial nerves and other limbs was otherwise normal. Full-Text PDF