Akademik Veri Yönetim Sistemi
EURODYSMORPHO 2023, Lisbon, Portekiz, 13 - 16 Eylül 2023, ss.28
Endocrine-cerebro-osteodysplasia (OMIM #612651, ECO) is an extremely rare, neonatal lethal, autosomal
recessive disorder with multiple anomalies involving the endocrine, cerebral, and skeletal system. To date,
seven cases diagnosed with ECO, that all died in utero or in neonatal period, have been described in the
literature.
Here we report a 18 month-old female patient who was born at 37+6 weeks to consanguineous parents.
Physical examination revealed hydrocephalic appearance, short nose, depressed nasal bridge, broad nasal
ridge, long philtrum, thin lips, low-set ears, brachydactyly, bilateral postaxial polydactyly of the hands, sandal
gap and short micromelia. In her cranial MRI, hypoplasia of the brainstem and intensity changes in peripheral
white matter in both cerebral hemispheres that may be due to delayed myelination, and external
hydrocephaly due to cortical atrophy were detected. In her abdominal ultrasonography dilated pelvicalyceal
structures of the left kidney and increased echogenicity in both kidneys were noted.
Whole exome sequencing analysis revealed a homozygous likely pathogenic CILK1
(NM_014920.5):c.1664_1665del (p.Tyr555CysfsTer48) variant in the patient, and segregation analysis
showed the healthy parents as carriers. In addition to that the patient had a pathogenic LMNA
(NM_170707.4):c.808A>C (p.Lys270Gln) variant that was inherited from her healthy mother.
This is the first report of ECO diagnosed in childhood. There might be several underlying mechanisms that
lead to prolonged survival for our patient; such as CILK1 variant being a null variant located at the 13th exon
which is the penultimate exon, therefore leading to a partial decrease of protein expression and/or it may
be caused by the presence of a secondary pathogenic LMNA variant.