Courtesy of my daughter
Dorum BA, Sambel IT, Ozkan H, Kiristioglu I, Koksal N.
Stromme Syndrome: New
Clinical Features. APSP J Case Rep. 2017 Mar 18;8(2):14.
Stromme syndrome is extremely rare autosomal-recessive
condition characterized by intestinal, ocular and cranial anomalies. In 1993
Stromme et al reported two sisters with jejunal atresia, cranial and ocular
anomalies. In 2007, van Bever et al
first proposed the name as Stromme syndrome for patients with similar clinical
conditions.
A baby girl was born, on the 35th week of gestation via
cesarean section, to an 18-year old mother. Apgar score at the 1st and 5th
minute was 8 and 9, respectively. Antenatal scan at 20th gestational week found
microcephaly, edema in both lower extremities and the dilation of the proximal
intestinal loops. No pathology was found on FISH examination in relation to
chromosome 13, 18, 21, X and Y during amniocentesis. At birth baby had weight
of 1890 gram (10-50 percentile), the height of 40cm (<10 percentile) and
head circumference of 26cm (<10 percentile). Examination of the head
revealed microcephaly, micrognathia and a high-bridged nose. Edema was
seen in both lower extremities. CBC showed thrombocytopenia
(86.000/mm3). Liver and kidney function tests, and albumin level were in normal
range. Serologic tests for TORCH and Parvovirus were negative. Abdominal
ultrasonography (USG) showed bilateral renal hypodysplasia. Ventricular septal
defect was found on Echocardiography. Ophthalmologic examination showed
microphthalmia, microcornea, and sclerocornea.
On the second day, due to bilious vomiting, an abdominal
radiograph was performed which showed double bubble appearance. On laparoscopic
examination, Type 3a jejunal atresia was detected, resection and end-to-end
anastomosis were performed. The cranial magnetic resonance imaging examination
detected gyral simplification, cerebellar hypoplasia, and corpus callosum
hypoplasia. Electroencephalogram examination was normal. With all these
findings, the patient was diagnosed with Stromme syndrome. On the 28th day, the
patient was discharged in good general condition.
Castori et al examined ten similar cases in the literature. They
found that jejunal atresia and ocular findings occurred in all patients
however, the head circumference of three patients was normal. Eight of the
patients were diagnosed with the apple peel type jejunal atresia. All of the
patients had jejunal atresia. Amongst ocular findings, sclerocornea was most
frequently seen. Other findings were microphthalmia, microcornea, ptosis,
epicanthus, etc. Unlike previous patients, edema in lower
extremities was detected prenatally and was also seen at the birth in patient.
Albumin level was normal. Edema was not observed in any other anatomical
region. Edema gradually disappeared. Due to thrombocytopenia platelets were
transfused before surgery. Thrombocytopenia also improved over time. To
conclude, our paient was clinically diagnosed as Stromme syndrome. Unlike
previous patients, this patient had additional features such as edema of lower
extremities, renal parenchymal changes, thrombocytopenia, and cardiac anomaly.
Filges I, Bruder E, Brandal K, Meier S, Undlien DE, Waage
TR, Hoesli I, Schubach M, de Beer T, Sheng Y, Hoeller S, Schulzke S, Røsby
O, Miny P, Tercanli S, Oppedal T, Meyer P, Selmer KK, Strømme P. Strømme
Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF. Hum Mutat. 2016
Apr;37(4):359-63.
Abstract
Strømme syndrome was first described by Strømme et al.
(1993) in siblings presenting with "apple peel" type intestinal
atresia, ocular anomalies and microcephaly. The etiology remains unknown to
date. We describe the long-term clinical follow-up data for the original pair
of siblings as well as two previously unreported siblings with a severe
phenotype overlapping that of the Strømme syndrome including fetal autopsy
results. Using family-based whole-exome sequencing, we identified truncating
mutations in the centrosome gene CENPF in the two nonconsanguineous Caucasian
sibling pairs. Compound heterozygous inheritance was confirmed in both
families. Recently, mutations in this gene were shown to cause a fetal lethal
phenotype, the phenotype and functional data being compatible with a human
ciliopathy [Waters et al., 2015]. We show for the first time that Strømme
syndrome is an autosomal-recessive disease caused by mutations in CENPF that
can result in a wide phenotypic spectrum.
Ozkinay F, Atik T, Isik E, Gormez Z, Sagiroglu M, Sahin OA,
Corduk N, Onay H. A further family of Stromme syndrome carrying CENPF
mutation. Am J Med Genet A. 2017 Jun;173(6):1668-1672.
Abstract
Stromme syndrome is a rare genetic disorder characterized by
microcephaly, anterior ocular chamber anomalies, and "apple peel"
type jejunal atresia. Here, we report a Stromme syndrome family with two
affected siblings with a homozygous truncating frameshift mutation in CENPF. A
3-month-old girl was hospitalized due to prenatally diagnosed microcephaly,
microphthalmia, and dysmorphological features. The history of a previous child
with the same findings in addition to "apple peel" intestinal atresia
had been noted. Regarding the clinical features of both affected siblings, a
diagnosis of Stromme syndrome was established. Exome-sequencing of these two
cases showed the homozygous mutation (c.5912_5913insA)/(p.T1974Nfs*9) in CENPF.
While confirmation of this gene being responsible for Stromme syndrome was
pending our results, Filges et al. reported that CENPF was indeed underlying
the reason for Stromme syndrome. This is the second case report identifying
CENPF mutation as the cause of Stromme syndrome.
Thank you for the information. I am the mother of two daughters affected with Stromme Syndrome. They both have microcephaly and presented with an intestinal atresia at birth. The elder (born 2008)has the ocular component as well as reduced renal function (the renal component). The younger(born 2012) does not have the ocular component nor any renal / cardiac issues noted. I would be willing to contribute to the body of knowledge concerning this syndrome.
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