Early diagnosis and treatment are essential in order to prevent upper urinary tract deterioration and renal failure. Intermittent catheterization may be needed. Treatment is symptomatic and involves bladder re-education, antibiotic prophylaxis, anticholinergic therapy and alpha-blockers. The penetrance of the disease is complete, but the clinical expression is variable even in individuals of the same family. The pattern of inheritance is autosomal recessive and genetic counseling should be offered to at-risk couples (both individuals are carriers of a disease-causing mutation) informing them that there is a 25% risk of having an affected child at each pregnancy. Prenatal diagnosis is possible where the pathogenic variant has previously been identified in a family member. However, not all patients will have prenatal manifestations as the onset of symptoms can occur in infancy or even adulthood. The disorder can be suspected prenatally on ultrasound findings of megabladder, hydroureter, and/or hydronephrosis. Differential diagnosisĭifferential diagnoses include Hinman-Allen syndrome (a rare voiding disorder of the bladder of neuropsychological origin), neuropathic bladder (e.g., due to a neurologic lesion such as spina bifida), vescicoureteric reflux, and urethral obstruction. A genetic diagnosis can be made through different tests including assessment of a single-gene testing ( HPSE or LRIG2 gene), exome or genome sequencing. Ultrasonography, renal scan, voiding cystourethrogram and urodynamics can be used to evaluate the lower urinary tract dysfunction. Diagnosis may be suspected following recognition of the peculiar facial expression during infancy. No formal diagnostic criteria have been published. The disorder is due to recessive mutations in either HPSE2 (10q23-q24) encoding inactive heparanase-2, or LRIG2 (1p13.2) encoding leucine-rich repeats and immunoglobulin-like domains protein 2 however, in up to 16% of patients, no associated mutations have been found. Nocturnal lagophthalmos has recently been described. The peculiar facial dysmorphism is related to an unusual inversion of facial expression that occurs when the child smiles or cries. About two-thirds of the patients have moderate to severe constipation. Voiding dysfunction is the result of an obstructive uropathy.

Patients present with incontinence, urinary tract infections and hydro-uretero-nephrosis with progressive renal impairment. The majority of cases reported in the literature are from Columbia, although affected families have also been reported worldwide. Correct and timely diagnosis allows greater opportunity for relief of patient suffering and prevention of severe ocular surface pathology, as well as educated planning for future ocular surgical procedures.The prevalence of the syndrome is not known more than 150 cases, mostly children, have been reported. Treatment is multipronged and may include minor procedures or ocular surgery to correct the lid malposition natural, topical or oral agents and punctal plugs to manage ocular surface effects. A diagnosis can usually be made with a focused history and slit lamp examination. We present a novel classification system and illustrations of obvious and obscure lagophthalmos. Although obvious lagophthalmos is usually detected, it is sometimes difficult to recognize obscure lagophthalmos, due either to eyelash obstruction or overhang of the upper lid anterior and inferior to the most superior portion of the lower lid in a closed position. There are a variety of causes of lagophthalmos, grouped as proptosis/eye exposure etiologies and palpebral insufficiency etiologies. Lagophthalmos is associated with exposure keratopathy, poor sleep, and persistent exposure-related symptoms. Nocturnal lagophthalmos is the inability to close the eyelids during sleep.

Nocturnal lagophthalmos ddx