April 28, 2009

Ruled Out: CLN1, CLN2, GM1

Ceroid lipofuscinoses, neuronal (CLN) are a group of fatal, autosomal recessive, progressive encephalopathies in children. They are characterized by psychomotor deterioration, visual failure, and the accumulation of autofluorescent lipopigment in neurons and other cell types. So, we're happy that CLN1, the infantile type (Santavuori-Haltia disease; MIM 256730), and CLN2, the late infantile type (Jansky-Bielschowsky disease; MIM 204500), have been ruled out!

GM1 gangliosidosis is an autosomal recessive lysosomal storage disorder characterized by the generalized accumulation of GM1 ganglioside, oligosaccharides, and the mucopolysaccharide keratan sulfate. Since GM1 has important physiological properties and impacts neuronal plasticity and repair mechanisms, the release of neurotrophins in the brain and is fatal, we are glad that this disorder is also ruled out (again--this was a retest).

Today, I found out that Bertrand's purine panel results are back, but not what they are. I also heard from Kelly Schoch, a geneticist at Duke with Dr. Shashi. Kelly said that Bertrand's microarray came back normal! His karyotype should be back later this week. After that, the only Duke results we are waiting on are: Nieman Pick Type C, Ataxia Ocular Motor Apraxia, and Mitochondrial DNA Depletion.

I also shared with Kelly and Dr. Shashi the results of B's CSF ACTH. Dr. Longo has said, "I am still not sure about the increased ACTH: ACTH as prolactin [B's prolactin is also elevated] is inhibited by dopamine and that might be the problem. I would wait on the neurotransmitters to see HVA levels in the CSF." So, baby-roids are on hold for now. ;) Tomorrow I'll check on the status/turn around time for the neurotransmitter metabolites panel.

After all this, Dr. Book's office called to schedule a follow-up. Bertrand will be seeing Dr. Book, gastroenterologist, on June 29th--the soonest available appointment. She will be reviewing whether or not Bertrand may now need a liver biopsy, since so many tests are happily resulting as normal. We also scheduled an appointment with Dr. Grimmer, otolaryngologist, for May 26th to check for narrowing of the esophagus.


  1. Cristinita
    You are GREAT! I cannot imagine how many medical technical terms you have learned. I insist you should get an MD without having to go thru school for 4 years! I will propose a special law for you on this to the PR legislature! Ja, Ja, Ja!
    Love and big hugs and kisses to all,
    Titi Lili

  2. I read that B and you will be planting potatoes this week! Great! Hope they grow well and you can savor them!

  3. Yes, Bertrand and I already planted tomatoes. We'll be planting potatoes, squash, green beans, cantaloupe, and herbs through the middle of May. B loves to be outside with me while I work in the garden! If he continues to improve, I promised him I'd buy chickens for him next year! He's my little farmer boy. :)

  4. I am glad you got so many good results excluding those bad conditions. It is good to hear that you and Bertrand are having fun in the garden. Abuelito Tote would have enjoyed planting with both of you. I am glad both of you got his genes for loving nature and planting fruits and vegetables. Keep enjoying nature.
    Besos y abrazos,