Neurocutaneous Melanosis With Dandy-Walker Malformation Complicated by Primary Spinal Leptomeningeal Melanoma

Abstract

410The most interesting feature of our case was that of the mother's underlying autoimmune disorder, ulcerative colitis. A number of studies, including several from Europe and Japan, have emphasized antecedent Camp?/~o6oc~r~'e/M~ enteritis as a frequent antecedent infection that may lead to development of Guillain-Barre syndrome.&dquo;-&dquo; Although it is possible that mother could have been infected during pregnancy with Campylobacterjejuni, leading to an exacerbation of ulcerative colitis in the 7th month of gestation, we were unable to demonstrate the presence of this infection.The negative cytomegalovirus antibody immunoglobulin G titer made a preceding cytomegalovirus infection in this infant unlikely. There was maternal serologic evidence after delivery of a past infection with Epstein-Barr virus. It is, therefore, possible that this could have been the antecedent illness, but this cannot be proven by the above data.This brings us to the consideration of the possible relationship of mother's ulcerative colitis or immunologic status to this infant's polyneuropathy. It is conceivable that circulatory autoantibodies to specific enteric structural proteins in ulcerative colitis can cross the placenta. A common amino acid sequence could result in a prominent inflammatory response to peripheral nerve myelin (&dquo;molecular mimicry&dquo;19). However, why the infant's and not the mother's peripheral nerve myelin would be susceptible is unclear. We were only able to find five cases of Guillain-Barr6 syndrome associated with ulcerative colitis.2o,zS ummary . This patient then represents the second documented case in the English medical literature with the diagnosis of in utero-acquired Guillain-Barr6 syndrome with complete recovery and the first neonatal case to fulfill all of the electrophysiologic criteria for Guillain-Barr6 syndrome. This case stresses the good overall prognosis of this disorder when it presents in the neonate and the need to consider Guillain-Barr6 syndrome in the differential diagnosis of generalized hypotonia of infancy, particularly in the setting of a maternal autoimmune disorder.

Neurocutaneous Melanosis Associated with Dandy-Walker Malformation

“…Other CNS or systemic abnormalities such as midline vertebral column defects, intraspinal lipomas, arachnoid cysts, intracranial mass and syringomyelia may be associated with neurocutaneous melanosis [1, 2, 3, 4, 5, 15, 34, 35]. The coexistence of these developmental abnormalities supports the pathogenesis discussed above rather than foraminal obstruction as an underlying mechanism.…”

“…Calcium, blood and fat are the other causes of T 1 shortening on MRI but may be eliminated by CT. Meningeal enhancement is not a rule [30], but frequently reported by many authors as likely, as in the presented case [4, 33]. Elevated serum levels of CA-125 and homovanillic acid in a metastatic melanoma case have also been recorded in the literature [2]. …”

“…The neurological manifestations are usually progressive and eventually fatal. The data about the benefits of chemotherapy and/or radiotherapy are unclear and require the accumulation of more data [2, 5]. We believe that an increased number of cases in the literature will help us to elucidate the mysteries of this rare entity.…”

“…The association of Dandy-Walker malformation or variants with neurocutaneous melanosis is another interesting topic, and there are around 10 cases reported in the literature [1, 2, 4, 14, 15, 16, 17, 18, 19, 20, 21]. Since Dandy and Blackfan’s first introduction in 1914 [16], the definition and possible mechanisms of this developmental abnormality have been widely discussed in the literature [3, 14, 15, 18, 21, 22, 23, 24, 25, 26].…”

“…The meninges of the skull base, ventral surfaces of brain stem and cerebellum are the most affected sites. The associated developmental malformations of the central nervous system (CNS), especially the Dandy-Walker complex, arachnoid cysts and occult spinal dysraphism, are not infrequent events with this rare entity [1, 2, 3, 4, 5]. The common neurological manifestations are irritability, lethargy, nausea and vomiting, neck stiffness, bulged fontanel, papilledema and cranial nerve palsies as the signs and symptoms of increased intracranial pressure [1, 4, 6, 7].…”