Abstract
Gomez-Lopez-Hernandez syndrome (GLHS) is a rare syndrome comprising the triad rhombencephalosynapsis (RS), parietal alopecia, and trigeminal anesthesia. Other typical findings are skull abnormalities, craniofacial dysmorphic signs, and short stature. Intellectual impairment is typical but cases with normal cognitive functions have also been reported. Only 15 cases of GLHS have been described so far, all sporadic. We report four further patients with GLHS: one neonate, two children and a middle aged man. In all cases the diagnosis was made only in retrospect; one child died as neonate due to esophageal atresia. All patients presented RS and parietal alopecia, three intermittent head stereotypies, two had obvious trigeminal anesthesia, and one normal cognition. Alopecia and also trigeminal anesthesia can be very mild and can be easily missed. However, the dysmorphic signs including bilateral alopecia are already present in the neonatal period and are highly suggestive of GLHS. RS should be looked for in this situation. It is important to mention that neuroimaging does not allow distinguishing between isolated RS and GLHS. If RS is diagnosed the clinical signs of GLHS should be sought. The diagnosis of GLHS can only be made by the combination of the typical dysmorphic signs and neuroimaging in the neonatal period, but not prenatally.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 197-208 |
| Number of pages | 12 |
| Journal | European Journal of Medical Genetics |
| Volume | 51 |
| Issue number | 3 |
| DOIs | |
| State | Published - May 2008 |
| Externally published | Yes |
Fingerprint
Keywords
- Cerebello-trigeminal-dermal dysplasia
- Cognitive function
- Esophageal atresia
- Neurogenic bladder
- Parietal scalp alopecia
- Rhombencephalosynapsis
- Trigeminal anesthesia
ASJC Scopus subject areas
- Genetics
Cite this
Gomez-Lopez-Hernandez syndrome : An easily missed diagnosis. / Poretti, Andrea; Bartholdi, Deborah; Gobara, Sonja; Alber, Fabienne Dietrich; Boltshauser, Eugen.
In: European Journal of Medical Genetics, Vol. 51, No. 3, 05.2008, p. 197-208.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Gomez-Lopez-Hernandez syndrome
T2 - An easily missed diagnosis
AU - Poretti, Andrea
AU - Bartholdi, Deborah
AU - Gobara, Sonja
AU - Alber, Fabienne Dietrich
AU - Boltshauser, Eugen
PY - 2008/5
Y1 - 2008/5
N2 - Gomez-Lopez-Hernandez syndrome (GLHS) is a rare syndrome comprising the triad rhombencephalosynapsis (RS), parietal alopecia, and trigeminal anesthesia. Other typical findings are skull abnormalities, craniofacial dysmorphic signs, and short stature. Intellectual impairment is typical but cases with normal cognitive functions have also been reported. Only 15 cases of GLHS have been described so far, all sporadic. We report four further patients with GLHS: one neonate, two children and a middle aged man. In all cases the diagnosis was made only in retrospect; one child died as neonate due to esophageal atresia. All patients presented RS and parietal alopecia, three intermittent head stereotypies, two had obvious trigeminal anesthesia, and one normal cognition. Alopecia and also trigeminal anesthesia can be very mild and can be easily missed. However, the dysmorphic signs including bilateral alopecia are already present in the neonatal period and are highly suggestive of GLHS. RS should be looked for in this situation. It is important to mention that neuroimaging does not allow distinguishing between isolated RS and GLHS. If RS is diagnosed the clinical signs of GLHS should be sought. The diagnosis of GLHS can only be made by the combination of the typical dysmorphic signs and neuroimaging in the neonatal period, but not prenatally.
AB - Gomez-Lopez-Hernandez syndrome (GLHS) is a rare syndrome comprising the triad rhombencephalosynapsis (RS), parietal alopecia, and trigeminal anesthesia. Other typical findings are skull abnormalities, craniofacial dysmorphic signs, and short stature. Intellectual impairment is typical but cases with normal cognitive functions have also been reported. Only 15 cases of GLHS have been described so far, all sporadic. We report four further patients with GLHS: one neonate, two children and a middle aged man. In all cases the diagnosis was made only in retrospect; one child died as neonate due to esophageal atresia. All patients presented RS and parietal alopecia, three intermittent head stereotypies, two had obvious trigeminal anesthesia, and one normal cognition. Alopecia and also trigeminal anesthesia can be very mild and can be easily missed. However, the dysmorphic signs including bilateral alopecia are already present in the neonatal period and are highly suggestive of GLHS. RS should be looked for in this situation. It is important to mention that neuroimaging does not allow distinguishing between isolated RS and GLHS. If RS is diagnosed the clinical signs of GLHS should be sought. The diagnosis of GLHS can only be made by the combination of the typical dysmorphic signs and neuroimaging in the neonatal period, but not prenatally.
KW - Cerebello-trigeminal-dermal dysplasia
KW - Cognitive function
KW - Esophageal atresia
KW - Neurogenic bladder
KW - Parietal scalp alopecia
KW - Rhombencephalosynapsis
KW - Trigeminal anesthesia
UR - http://www.scopus.com/inward/record.url?scp=43049170502&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=43049170502&partnerID=8YFLogxK
U2 - 10.1016/j.ejmg.2008.01.004
DO - 10.1016/j.ejmg.2008.01.004
M3 - Article
C2 - 18342593
AN - SCOPUS:43049170502
VL - 51
SP - 197
EP - 208
JO - European Journal of Medical Genetics
JF - European Journal of Medical Genetics
SN - 1769-7212
IS - 3
ER -