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Pediatric mild traumatic brain injury is a frequent cause for emergency consultations. Very often, management decisions focus only on acute neurological problems, without considering possible long-term impairment. Our case describes a 14-year-old girl who developed a pronounced and prolonged postconcussive syndrome and subsequent posttraumatic stress symptoms after (mild) traumatic brain injury. Early discharge without adequate instructions about the appropriate time to return to school and daily life activities promoted these striking problems. Only the delayed interventions including reduction of school workload and initiation of physiotherapy led to an improvement of symptoms. CONCLUSIONS: Traumatologists, pediatricians, and general practitioners should call families' and teachers' attention to the risk of potential postconcussive syndrome and advise them on appropriate coping strategies. Thorough clinical examination should rule out potentially treatable physical impairments. Prescription of physical and cognitive rest at an early stage is mandatory and should be part of concussion management already at emergency department. Pediatricians or general practitioners should follow up patients and support their gradually working back into full activity.

Pontocerebellar hypoplasia (PCH) represents a group of autosomal-recessive progressive neurodegenerative disorders of prenatal onset. Eleven PCH subtypes are classified according to clinical, neuroimaging and genetic findings. Individuals with PCH type 9 (PCH9) have a unique combination of postnatal microcephaly, hypoplastic cerebellum and pons, and hypoplastic or absent corpus callosum. PCH9 is caused by biallelic variants in AMPD2 encoding adenosine monophosphate deaminase 2; however, a homozygous AMPD2 frameshift variant has recently been reported in two family members with spastic paraplegia type 63 (SPG63). We identified homozygous or compound heterozygous AMPD2 variants in eight PCH-affected individuals from six families. The eight variants likely affect function and comprise one frameshift, one nonsense and six missense variants; seven of which were novel. The main clinical manifestations in the eight new patients and 17 previously reported individuals with biallelic AMPD2 variants were postnatal microcephaly, severe global developmental delay, spasticity, and central visual impairment. Brain imaging data identified hypomyelination, hypoplasia of the cerebellum and pons, atrophy of the cerebral cortex, complete or partial agenesis of the corpus callosum and the "figure 8" shape of the hypoplastic midbrain as consistent features. We broaden the AMPD2-related clinical spectrum by describing one individual without microcephaly and absence of the characteristic "figure 8" shape of the midbrain. The existence of various AMPD2 isoforms with different functions possibly explains the variability in phenotypes associated with AMPD2 variants: variants leaving some of the isoforms intact may cause SPG63, while those affecting all isoforms may result in the severe and early-onset PCH9.