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A ranula is a pseudocyst that originates from the sublingual gland after trauma. Acute cases of ranulas that progress rapidly and cause respiratory distress are rare. Holoprosencephaly is a complex brain malformation caused by incomplete cleavage of the prosencephalon. Children with holoprosencephaly may experience upper airway obstruction due to the associated dentoalveolar malformations and oromotor dysfunctions. We present the case of an eight-year-old female patient with holoprosencephaly and a plunging ranula that manifested as an acute course due to difficult airway management. She required gastrostomy for oromotor dysfunctions related to feeding and swallowing and difficulty managing oral secretions. The sublingual gland and ranula were removed under general anesthesia. Postoperatively, urgent reintubation and close monitoring in the intensive care unit were required due to upper airway obstruction. We successfully managed the patient with close cooperation of a pediatrician and an anesthetist, and no recurrence was observed at the one-year follow-up. A ranula can be caused by trauma to the floor of the mouth in association with lingually inclined mandibular teeth, a type of dentoalveolar compensation seen in maxillary hypoplasia associated with holoprosencephaly. Careful consideration is needed in such cases since airway management can be difficult due to postoperative swelling and oromotor dysfunctions.

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Congenital cranial dysinnervation disorders (CCDDs) are a heterogeneous group of neurodevelopmental phenotypes caused by a primary disturbance of innervation due to deficient, absent, or misguided cranial nerves. Although some CCDDs genes are known, several clinical phenotypes and their aetiologies remain to be elucidated. We describe a 12-year-old boy with hypotonia, developmental delay, sensorineural hearing loss, and keratoconjunctivitis due to lack of corneal reflex. He had a long expressionless face, severe oromotor dysfunction, bilateral agenesis/severe hypoplasia of the VIII nerve with marked atresia of the internal auditory canals and cochlear labyrinth malformation. Trio-exome sequencing identified a homozygous loss of function variant in the NEUROG1 gene (NM_006161.2: c.202G > T, p.Glu68*). NEUROG1 is considered a causal candidate for CCDDs based on (i) the previous report of a patient with a homozygous gene deletion and developmental delay, deafness due to absent bilateral VIII nerves, and severe oromotor dysfunction; (ii) a second patient with a homozygous NEUROG1 missense variant and corneal opacity, absent corneal reflex and intellectual disability; and (iii) the knockout mouse model phenotype which highly resembles the disorder observed in humans. Our findings support the growing compelling evidence that loss of NEUROG1 leads to a very distinctive disorder of cranial nerves development.

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BACKGROUND: Mutations in forkhead box protein P1 (FOXP1) cause intellectual disability (ID) and specific language impairment (SLI), with or without autistic features (MIM: 613670). Despite multiple case reports no specific phenotype emerged so far. METHODS: We correlate clinical and molecular data of 25 novel and 23 previously reported patients with FOXP1 defects. We evaluated FOXP1 activity by an in vitro luciferase model and assessed protein stability in vitro by western blotting. RESULTS: Patients show ID, SLI, neuromotor delay (NMD) and recurrent facial features including a high broad forehead, bent downslanting palpebral fissures, ptosis and/or blepharophimosis and a bulbous nasal tip. Behavioural problems and autistic features are common. Brain, cardiac and urogenital malformations can be associated. More severe ID and NMD, sensorineural hearing loss and feeding difficulties are more common in patients with interstitial 3p deletions (14 patients) versus patients with monogenic FOXP1 defects (34 patients). Mutations result in impaired transcriptional repression and/or reduced protein stability. CONCLUSIONS: FOXP1-related ID syndrome is a recognisable entity with a wide clinical spectrum and frequent systemic involvement. Our data will be helpful to evaluate genotype-phenotype correlations when interpreting next-generation sequencing data obtained in patients with ID and/or SLI and will guide clinical management.

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INTRODUCTION: Patients with cerebral palsy (CP), besides the basic neurological damage, are also often undernourished. Adequate nutrition for children is very important during the period of intensive growth and development, which is of particular importance in patients with CP. GOAL: To evaluate the nutritional status of patients with CP who are treated at the Pediatric Clinic, Clinical Centre of Sarajevo University and causes of malnutrition in these patients. MATERIALS AND METHODS: Eighty patients with CP underwent anthropometric assessment (body weight, body height, body mass index, head circumference, subscapular skinfold thickness, triceps skinfold thickness and mid upper arm muscle circumference). Severity of CP was classified based on the Gross Motor Function Classification System (GMFCS). We compared the anthropometric parameters of our patients with normal values of healthy children, as well as with degree of motor impairment, oromotor dysfunction, feeding assistance, length of meals and daily feeding time. RESULTS: There were significant differences in all monitored parameters in relation to normal values, with 38 (47.5%) malnourished patients in the total group, out of which 29 (63.0%) with severe motor impairment and with 9 (11.3%) obese patients in the total group. The presence of oromotor dysfunction and other monitored parameters had a significant impact on the nutritional status of these patients. CONCLUSION: In severely disabled patients with CP there is a risk of profound malnutrition. Early identification and treatment of these patients is very important for their growth, development and health.