[Macrocephaly-capillary malformation. A neonatal case].

Area of Science:

• Medical Genetics
• Pediatric Neurology
• Congenital Anomalies

Background:

• Macrocephaly-cutis marmorata telangiectatica congenita, now known as macrocephaly-capillary malformation (MCM) syndrome, is a rare multiple congenital anomaly syndrome.
• First described in 1997, MCM syndrome presents with macrocephaly and various other abnormalities, including characteristic skin findings.

Observation:

• A case report details a newborn diagnosed with MCM syndrome, exhibiting features such as fetal macrosomia, macrocephaly, marbled skin, vascular anomalies, syndactyly, and hemi-hypertrophy.
• Brain MRI revealed hemimegalencephaly, and skeletal examination showed limb asymmetry.

Findings:

• The patient presented with macrocephaly and multiple key features of MCM syndrome, including cutis marmorata, superficial vascular anomalies, syndactyly, and body asymmetry.
• Diagnosis was confirmed at 8 months, with neurosurgical treatment for hydrocephalus secondary to Arnold Chiari malformation.

Implications:

• Early diagnosis of MCM syndrome is vital for initiating timely multidisciplinary follow-up.
• Proactive management can help prevent or mitigate serious neurological, orthopedic, and oncologic complications associated with this rare condition.