Yasser H. Al-Faky

Molecular and neurological characterizations of three Saudi families with lipoid proteinosis

BackgroundLipoid proteinosis is a rare autosomal recessive disease characterized by cutaneous and mucosal lesions and hoarseness appearing in early childhood. It is caused by homozygous or compound heterozygous mutations in the ECM1 gene. The disease is largely uncharacterized in Arab population and the mutation(s) spectrum in the Arab population is largely unknown. We report the neurologic and neuroradiologic characteristics and ECM1 gene mutations of seven individuals with lipoid proteinosis (LP) from three unrelated consanguineous families.MethodsClinical, neurologic, and neuro-ophthalmologic examinations; skin histopathology; brain CT and MRI; and sequencing of the fullECM1 gene.ResultsAll seven affected individuals had skin scarring and hoarseness from early childhood. The two children in Family 1 had worse skin involvement and worse hoarseness than affected children of Families 2 and 3. Both children in Family 1 were modestly mentally retarded, and one had typical calcifications of the amygdalae on CT scan. Affected individuals in Families 2 and 3 had no grossneurologic, neurodevelopmental, or neuroimaging abnormalities. Skin histopathology was compatible with LP in all three families. Sequencing the full coding region of ECM1 gene revealed two novel mutationsin Family 1 (c.1300-1301delAA) and Family 2 (p.Cys269Tyr) and in Family 3 a previously described 1163 bp deletion starting 34 bp into intron 8.ConclusionsThese individuals illustrate the neurologic spectrum of LP, including variable mental retardation, personality changes, and mesial temporal calcificationand imply that significant neurologic involvement may be somewhat less common than previously thought. The cause of neurologic abnormalities was not clear from either neuroimaging or from what is known about ECM1 function. The severity of dermatologic abnormalities and hoarseness generally correlated with neurologic abnormalities, with Family 1 being somewhat more affected in all spheres than the other two families. Nevertheless, phenotype-genotype correlation was not obvious, possibly because of difficulty quantifying the neurologic phenotype and because of genetic complexity.

A prospective, randomised comparison of probing versus bicanalicular silastic intubation for congenital nasolacrimal duct obstruction

Purpose To compare the success rates of probing versus bicanalicular silastic intubation as the primary treatment for congenital nasolacrimal duct obstruction (CNLDO) in children ≥1 year old. Study design Prospective, randomised, comparison. Methods Participants were randomised to undergo probing or bicanalicular silastic intubation. In bilateral cases, the right eye was used for analysis. The procedure was considered successful when all preoperative manifestations disappeared with normal dye disappearance test and a positive Jones primary dye test at least 6 months postoperatively. Secondary outcomes were risk factors for failure. Outcomes were compared between treatments with p<0.05 indicating statistical significance. Results 207 eyes of 181 children between 1 and 8 years old with CNLDO who had not undergone previous surgical treatment were included in the study. 88 eyes underwent probing with a 84.1% success rate and 93 eyes that underwent bicanalicular silastic intubation had a 89.2% success rate (p=0.429). For simple CNLDO, there was a 94.2% (65/69) success rate with probing and a 90.9% (60/66) success rate with bicanalicular silastic intubation (p=0.687). In complex CNLDO, there was a 47.4% (9/19; p=<0.001) success rate with probing and an 85.2% (23/27; p=0.419) success rate with silastic intubation (p=0.016). Age was not a risk factor for failure in either procedure. Conclusions Probing for simple CNLDO in young children is adequate. Bicanalicular silastic intubation seems to have a role in achieving successful outcomes in complex CNLDO.

Nasal endoscopy in the management of congenital nasolacrimal duct obstruction.

Probing is a reliable surgical intervention for the management of congenital nasolacrimal duct obstruction (CNLDO). However, it is a blind procedure that carries the risk of false passage formation. Moreover, its success rate is variable, with unexplained causes of failure. Recent literature suggests the use of nasal endoscopic-assisted probing to minimize nasal mucosal trauma, decreases the chance of creating a false passage and provides the optimum management option of different congenital variants of nasolacrimal duct obstruction. Nasal endoscopic-assisted probing has more or less consistent success rates varied between 85% and 98% compared with probing success rates, which vary between 55% and 95% despite having almost the same age range.

Congenital myasthenic syndrome due to homozygous CHRNE mutations: report of patients in Arabia.

We describe the clinical characteristics of 3 siblings from 1 family with congenital myasthenic syndrome due to homozygous mutations of the gene coding for the epsilon subunit of the acetylcholine receptor (CHRNE). Onset of symptoms occurred in the first few months of life with ptosis, restricted ocular motility, mild proximal weakness, and difficulty swallowing. Multiple hospital admissions were required due to recurrent pulmonary infections. There was no decremental conduction on repetitive nerve stimulation, but jitter was increased on single fiber electromyographic. Since early childhood, our patients have done well without pulmonary or bulbar symptoms and with partial improvement on pyridostigmine therapy. Response of ptosis to diagnostic ice pack test was striking. Although these siblings have a clinical history and examination findings typical of homozygous CHRNE mutations, the clinical presentation of congenital myasthenia subtypes is variable, and accurate genotyping is essential in choosing the appropriate treatment.

Anatomical utility of ultrasound biomicroscopy in the lacrimal drainage system

Background Ultrasound biomicroscopy (UBM) is a safe and non-invasive auxiliary diagnostic tool. UBM evaluation of the lacrimal drainage system (LDS) can be limited by obstacles, such as keratinised epithelium of the skin coverage and difficulty with positioning the eye cup, owing to irregularities of the medial canthus area wherein the LDS is located. Aim To evaluate LDS in normal individuals and in different pathological conditions using UBM. Methods UBM evaluation was carried out using a modified technique using swimming goggles with the front eye piece removed as an adjunctive device to overcome the difficulties of UBM evaluation of LDS. Results A total of 24 normal LDS were evaluated in 12 volunteers with an age range of 14 to 54 years (mean 31.17±14.09). The lacrimal sac (LS) longitudinal diameter was always greater than the screen limits (≥15 mm), and the width varied from 1.87 mm to 3.36 mm (mean 2.56±0.43). Horizontal scanning of the LS revealed a mean cross-sectional area of 5.74 (±2.61) mm2. The cross-section diameter of the canaliculi varied from 0.52 mm to 0.88 mm. LDS was also evaluated with UBM for the following disorders: chronic dacryocystitis, LS fistula, mucocoele, dacryolith, LDS with silicon tube, congenital and acquired canalicular obstruction, punctal plugs, Downs syndrome and Sjögren syndrome after permanent punctal occlusion. Conclusions UBM is a valuable tool in the assessment of both normal and diseased LDS. It is a valuable tool in the evaluation of LDS distal to the site of complete obstruction.

Medial canthus retiform hemangioendothelioma

Retiform hemangioendothelioma (RH) is a distinct entity in the spectrum of vascular tumors with a high local recurrence rate. It is considered a low-grade, well-differentiated cutaneous angiosarcoma with low metastatic potential. We report here for the first time a case of medial canthus recurrent RH. It may be helpful in our practice to include RH as a differential diagnosis of eyelid lesions. It is noteworthy that the progressive course and recurrence tendency of RH might be misdiagnosed as angiosarcoma or basal cell carcinoma (BCC), if not expected and carefully evaluated by the pathologist.

Management of unilateral versus bilateral lacrimal drainage system dysfunction in Down syndrome.

PURPOSE To evaluate treatment outcomes of unilateral versus bilateral congenital nasolacrimal duct (NLD) obstruction in patients with Down syndrome and highlight the effect of associated features that could result in poor outcomes. METHODS A total of 34 lacrimal drainage systems (LDSs) were treated in 22 patients with Down syndrome who had a mean age of 47 (± 41.8) months. Charts of patients with Down syndrome with congenital NLD obstruction who had been treated in a university hospital with irrigation, probing, and intubation between 1998 and 2008 were reviewed. Clinical features were correlated to the documented intraoperative observations and postoperative results. RESULTS Patients with unilateral disease had a higher success rate (n = 10; 90%) than bilateral cases (n = 24; 45.8%) regardless of the procedure type. Most of the treated LDSs in patients older than 64 months were successful (n = 11 of 12; 91.7%). Single LDSs that underwent irrigation only (2.9%) failed, probing had 60% success (n = 10; 29.4%), and intubation had 60.9% success (n = 23; 67.7%). Four LDSs were treated successfully by Y-V plasty simultaneously with intubation. Lower-end NLD obstruction at the level of Hasners valve showed a 100% success rate (n = 7) compared with multiple obstructions with a 41.7% success rate (n = 27). CONCLUSION Unilateral disease and lower-end NLD obstruction are good prognostic factors. Careful punctal evaluation and management is advisable, and a possible delay of operative intervention in bilateral cases in patients 5 years and older aimed at improving hypotonia may be a wise decision.

Risk factors for developing congenital nasolacrimal duct obstruction

Objective To identify potential risk factors for developing congenital nasolacrimal duct obstruction (CNLDO). Study design and methods A cross-sectional study. A quantitative questionnaire was distributed to a sample of mothers attending the Pediatrics Clinic at King Khalid University Hospital, Riyadh, Saudi Arabia. Results A total of 756 mothers responded to our questionnaire. Of the 756 filled questionnaires, 389 (51.67%) were male children. 5.3% of the mothers lived in non-urban settings. CNLDO was reported in the children attending the clinic by 17.1% (129/756) of their mothers. Average age (±SD) of infants when persistent tearing was noticed was 3.2 ± 2.7 months, while average age (±SD) of resolution was 9.6 ± 3.7 months. Of the children with CNLDO, 37.2% (48/129) still have persistent tearing at the time of distributing the questionnaire. Among the group with CNLDO, 17% (22/129) of their mothers have experienced an infection during pregnancy (p = 0.022). Within the same group, 14.7% (19/129) of the affected children were reported by their mothers to have other children with CNLDO which was statistically significant (p = <0.001). Conclusion CNLDO could have a genetic predisposition and maternal infection is a possible risk factor for developing CNLDO. Surgical management awareness should be emphasized to relieve children from this relatively common and benign condition.

Bilateral subepidermal calcified nodules of the eyelid.

A subepidermal calcified nodule (SCN) is an uncommon benign lesion, which usually develops in early childhood and is typically solitary. A rare form of this lesion has been reported in the eyelid. We report here a case of a 12-year-old girl with bilateral nodules of the right upper eyelid and a left lower eyelid simulating epidermal cyst. The histopathologic examination of the excised nodule confirmed the diagnosis. To our knowledge, this may be the first bilateral case of eyelid SCN reported in the literature.

Hemangioendothelioma of the eyelid can mimic chalazion.

Hemangioendothelioma is an uncommon vascular lesion that usually occurs in the liver, bone, lung, skin, and other organs with unknown etiology. A rare form of this lesion has been reported in the eyelid. We report the case of a 27-year-old female with right lower eyelid mass simulating chalazion of 3 weeks duration. The histopathologic examination of the excised nodule confirmed the diagnosis. To our knowledge, this is the fourth case of eyelid epithelioid hemangioendothelioma reported in the English literature.