Evi Dwi Pratiwi

Neurology

SHAPIROS SYNDROME
Shapiros syndrome, first described in 1969, is an extremely rare disease that
only affecting about 50 people worldwide. Typically characterized by recurrent
episodes of excessive sweating and hypothermia and the agenesis of the corpus
callosum. The periodicity of the hypothermic episodes ranges from hours to years
and episodes may last hours to weeks. Typically, but not invariably, there are
associated central nervous system abnormalities affecting structures, particularly
in the hypothalamus.1
The reason for the variations in the episodes is not known yet. The cause of
the condition is currently unknown; however, a "resetting" of the temperature of
the body to a lower level has been suggested. 2 No single area in the brain controls
temperature; rather, thermoregulation involves a complex system of neural
connections between the hypothalamus, limbic system, brainstem, spinal cord,
and sympathetic ganglia. However, the hypothalamus can be considered the
brain's thermoregulatory center. The posterior center conserves heat by inducing
vasoconstriction and shivering. A problem in this area could lead to hypothermia
or poikilothermia. The anterior center controls heat dissipation by stimulating a
caudal hypothalamic region, thus inducing vasodilation and sweating. A problem
here may lead to hyperthermia that can be said as Shapiro's Syndrome.3
Periodic hypothermia has been observed with agenesis of the corpus
callosum, although the exact mechanism for this is not understood. Postulated
mechanisms for this phenomenon include degenerative processes, neurochemical
dysfunction, and inflammatory processes leading to a possible epileptic focus or
focus of periodic dysfunction. Although different treatment options have been
attempted in some patients, the treatments have been unsuccessful or of doubtful
efficacy because of the small number of individuals that have been documented as
having this condition.4 Therapy with clonidine, an 2-adrenoceptor agonist, was
associated with remission of symptoms: these recurred on four occasions when
clonidine was withdrawn. Clonidine therapy was also associated with a return to
normal central temperature regulation. We suggest that the efficacy of clonidine
reflects an action on hypothalamic thermoregulation rather than on peripheral
catecholamine release. These findings have implications for the use of clonidine
in other patients with Shapiro's syndrome and in more common disorders of
temperature control, including perimenopausal flushing.5
Daftar Pustaka
Takeuchi, Carlos Asugusto, Ronaldo Arkader. 2011. Shapiro syndrome with
hypothalamic hypothyroidism. Arq Neuropsiquiatr ;66(2-B) . (Online)
http://www.scielo.br/pdf/anp/v66n2b/v66n2ba29.pdf, accesed on 1
September 2015.
Genetic and Rare Disaeases Information Center. 2011. Shapiro Syndrome.
(Online) http://www.diseaseinfosearch.org/Shapiro+syndrome/6535 ,
accesed on 1 September 2015.

Evi Dwi Pratiwi

Neurology

Meyer, Kimberly and Edna Toubes Klingler. 2015. Shapiro's Syndrome: A

Renewed
Appreciation
for
Vital
Signs.
(Online)
http://cid.oxfordjournals.org/content/38/10/e107.full, accesed on
1
September 2015.
National Center for Advancing Translational Sciences. 2010. Shapiro Syndrome.
(Online)
https://rarediseases.info.nih.gov/gard/4815/shapirosyndrome/case/24162/case-questions, accesed on 1 September 2015.
Edwars, Crwm Br Walker, Jam Anderson. 2015. Clonidine Therapy for Shapiro's
Syndrome. DOI: http://dx.doi.org/ 235-245. (Online)
http://qjmed.oxfordjournals.org/content/82/3/235.short, accesed on 1
September 2015.

SINDROM SHAPIRO

Evi Dwi Pratiwi

Neurology

Sindrom Shapiro, pertama kali dijelaskan pada tahun 1969, adalah penyakit
yang sangat langka yang hanya mempengaruhi sekitar 50 orang di seluruh dunia.
Biasanya ditandai dengan episode berulang dari keringat berlebih dan hipotermia
serta agenesis corpus callosum. Periodisitas dari episode hipotermia berkisar dari
jam ke tahun dan episode bisa berlangsung berjam-jam hingga bermingguminggu. Biasanya terjadi seperti itu, tapi tidak selalu, ada yang terkait kelainan
sistem saraf pusat yang mempengaruhi struktur, khususnya di hipotalamus.1
Alasan untuk variasi dalam episode belum diketahui. Penyebab kondisi saat
ini tidak diketahui. Namun, pengulangan dari suhu tubuh untuk tingkat yang lebih
rendah telah disarankan.2 Tidak ada daerah tunggal dalam otak yang mengontrol
suhu; bukan termoregulasi melibatkan sistem yang kompleks dari hubungan saraf
antara hipotalamus, sistem limbik, otak, sumsum tulang belakang, dan ganglia
Simpatik. Namun, hipotalamus dapat dianggap pusat termoregulasi otak. Pusat
posterior melestarikan panas dengan menginduksi vasokonstriksi dan menggigil.
Masalah di daerah ini dapat menyebabkan hipotermia atau poikilothermia. Pusat
anterior mengontrol pembuangan panas dengan merangsang daerah hipotalamus
ekor, sehingga menginduksi vasodilatasi dan berkeringat. Sebuah masalah di sini
dapat menyebabkan hipertermia yang dapat dikatakan sebagai Shapiro
Syndrome.3
Hipotermia periodik telah diamati dengan agenesis dari corpus callosum,
meskipun mekanisme yang tepat untuk ini tidak dipahami. Mekanisme didalilkan
untuk fenomena ini meliputi proses degeneratif, disfungsi neurokimia, dan proses
inflamasi yang mengarah ke fokus epilepsi atau fokus disfungsi periodik.
Meskipun pilihan pengobatan yang berbeda telah dicoba pada beberapa pasien,
pengobatan tidak berhasil atau keberhasilan diragukan karena jumlah kecil dari
individu yang telah didokumentasikan sebagai pemilik kondisi tersebut.4 Terapi
dengan clonidine, agonis 2-adrenoseptor, dikaitkan dengan remisi gejala: ini
terulang pada empat kesempatan ketika clonidine ditarik. Terapi clonidine juga
dikaitkan dengan kembali ke pengaturan suhu sentral normal. Kami menyarankan
bahwa khasiat clonidine mencerminkan tindakan pada termoregulasi hipotalamus
bukan pada katekolamin rilis perifer. Temuan ini memiliki implikasi untuk
penggunaan clonidine pada pasien lain dengan sindrom Shapiro dan pada
gangguan yang lebih umum dari kontrol suhu, termasuk pembilasan
perimenopause.5
Daftar Pustaka
Takeuchi, Carlos Asugusto, Ronaldo Arkader. 2011. Shapiro syndrome with
hypothalamic hypothyroidism. Arq Neuropsiquiatr ;66(2-B) . (Online)
http://www.scielo.br/pdf/anp/v66n2b/v66n2ba29.pdf, diakses 1
September 2015.
Genetic and Rare Disaeases Information Center. 2011. Shapiro Syndrome.
(Online) http://www.diseaseinfosearch.org/Shapiro+syndrome/6535 ,
diakses 1 September 2015.

Evi Dwi Pratiwi

Neurology

Meyer, Kimberly and Edna Toubes Klingler. 2015. Shapiro's Syndrome: A

Renewed
Appreciation
for
Vital
Signs.
(Online)
http://cid.oxfordjournals.org/content/38/10/e107.full, diakses 1 September
2015.
National Center for Advancing Translational Sciences. 2010. Shapiro Syndrome.
(Online)
https://rarediseases.info.nih.gov/gard/4815/shapirosyndrome/case/24162/case-questions, diakses 1 September 2015.
Edwars, Crwm Br Walker, Jam Anderson. 2015. Clonidine Therapy for Shapiro's
Syndrome. DOI: http://dx.doi.org/ 235-245. (Online)
http://qjmed.oxfordjournals.org/content/82/3/235.short, diakses 1
September 2015.