July 11, 2009

Impending NIH Visit

This Monday, Bertrand and I will be traveling to Bethesda, Maryland to see the SEGEN group (section on endocrinology and genetics) at the NIH. Why endocrinology and genetics? There is a very rare and peculiar genetic disorder called Allgrove's Syndrome, or Triple A Syndrome, that is an increasingly likely match for Bertrand.

Below is a paraphrase of a paper entitled "Clinical and genetic characterization of families with triple A (Allgrove) syndrome" by Henry Houlden et al. published in BRAIN.

Triple A (Allgrove) syndrome is characterized by achalasia, alacrima, adrenal abnormalities and a progressive neurological syndrome. Affected individuals have between two and four of these relatively common clinical problems; hence the diagnosis is often difficult in all but the classical presentation. The inheritance is autosomal recessive, and most cases of triple A have no family history. Using genetic linkage analysis in a small number of families, a locus on chromosome 12q13 was identified. The triple A gene was identified recently at this locus and called ALADIN (alacrima, achalasia, adrenal insufficiency, neurologic disorder). Associated neurological abnormalities include optic atrophy, autonomic neuropathy and upper and lower motor neurone signs including distal motor neuropathy and amyotrophy with severe selective ulnar nerve involvement.

So how does this relate to Bertrand? Bertrand doesn't cry tears. This condition is called alacrima and it ranges from simply no tears, to absolutely no eye moisture causing corneal blistering. This is the earliest indicator of Allgrove's. Fortunately, Bertrand has some moisture in his eyes, but not enough to keep them from appearing increasingly red. Achalasia and adrenal insufficiency (the other two A's in Triple A) can develop later in life.

Both a nerve conduction study and an EMG have confirmed that Bertrand has neuropathy. In particular, he is said to have carpal tunnel syndrome which is definitely "ulnar nerve involvement". Bertrand's excessive sweating, low body temperature and cold extremities could be symptoms of autonomic neuropathy. Also, as we've mentioned before, it is believed that B has the beginning of optic nerve atrophy.

Allgrove's is the only condition in it's literature to specifically mention Puerto Rican ancestry. That makes me (a Puerto Rican) particularly wary.

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