Classic Neuroimaging Features in a Case of Congenital Muscular Dystrophy [Fukuyama Variant] – a Rare Cause of Infantile Hypotonia in an Indian Male
The aetiological diagnosis in an infant with hypotonia is a challenging task for a clinician due to variable and long list of differentials . It could be due to an insult within the central nervous system (CNS) or less commonly result from a peripheral defect at neuro-muscular level and other miscellaneous causes (rickets, hypothyroidism) . Most commonly it is a central hypotonia where the muscular weakness is absent or not profound. In Indian scenario, it is mostly idiopathic central hypotonia, followed by HIE (cerebral palsy) . In cases of cerebral palsy, neuro-imaging reveals the severity of affliction. The peripheral aetiologies like congenital myopathies, congenital myasthenia, infantile botulism etc. are rather rare occurrences. Infants with congenital muscular dystrophy have muscular dystrophy, central neural affliction and involvement of multiple systems (skeletal, cardiovascular, respiratory, ocular etc.). It is a rare disease with studies in Italian population showing point prevalence of 0.563 per 100,000 total population . Unlike HIE, the affliction in CMD is multi-system and it is an inherited disease with variable penetration, the distinction between the two is important to a clinician for the management. CMDs generally have early fatal outcome. So, early diagnosis is important for prognostication, supportive treatment and genetic counselling. The neuro-imaging findings of CMD clearly stand out from the rest aetiologies and can guide a clinician to go in early , for an invasive test like muscle biopsy which is the gold standard diagnostic test .
Atypical carcinoid in the anterior mediastinum is a rare neoplasm. In our case the huge mediastinal carcinoid was treated with surgery using a median sternotomy and clamshell incision because of the extension of the tumor. We describe our difficulties under the surgery and take a look at the literature.
Here, we report a case of hepatic sinusoidal obstruction syndrome(HSOS) of a 30 years old female patient with Ulcerative colitis(UC) who was being treated by mesalazine. The patient was admitted to the emergency unit by harsh and cramping abdominal pain, she had increased AST-ALT-Bilirubine and GGT levels in the blood laboratory analysis. In the Portal venous Doppler US; Splenomegaly and coarse granular appearance in liver parenchymal echogenecity were observed. In the abdominal CT, Splenomegaly was confirmed. In the Dynamic Abdominal MRI, pathognomonic liver finding which was the patchy contrast-enhancing reticular appearance, was visualized and the exact diagnosis was handled by true-cut biopsy. The aid of Dynamic Abdominal MRI to the early diagnosis of HSOS was also demonstrated in this case.
Background: Although multiple reports exist in the literature of patients with 15q11.2 deletion syndrome, the variability of the phenotype has made clinical delineation difficult. Neuro-developmental scores have not been previously reported. We present clinical findings in a group of 16 patients referred to our center for evaluation and management of neurodevelopmental difficulties. Methods: All patients were seen in our center between 2005 and 2016. They were seen by a clinical geneticist and their diagnosis of 15q11.2 deletion syndrome was confirmed by a microarray analysis. Bayley Scales of Infant Development was done and provided a mental developmental index and a motor developmental index. The data collected was then compared to previous reports in the literature of patients with 15q11.2 deletion syndrome. Results: The reviewed group consisted of 10 males and 6 female patients between the ages of 3 and 15 years. The most common clinical findings included developmental delay (94%), hypotonia (88%), ADHD (75%), anxiety (50%), feeding difficulties (44%), autism (31%), dolichocephaly (25%), 2-3 toe syndactyly (19%), seizure activity (19%), and congenital heart disease (13%). Additional findings included prominence of the metopic suture, epicanthal folds, micrognathia, ankle torsion, incontinence, and sleeping difficulties. Our developmental evaluation by the Bayley Scales of Infant Development indicated an average Mental Developmental Index of 75 (NL = >85) and Motor Developmental Index of 75 (NL = >85) in the patients less than 3 years old. Close to 43% of patients had an occipitofrontal circumference (OFC) greater than or equal to the 97th. Conclusion: The data provided here intends to expand the phenotype of the 15q11.2 deletion syndrome. Neurodevelopmental scores have not been previously reported in 15q11.2 del syndrome which were found to be in the mild developmental delay range.
A severe case of toxic epidermal necrolysis which started with agep-like features: Does a new clinical type of drug eruption?
Acute generalized exanthematous pustulosis (AGEP) and toxic epidermal necrolysis (TEN) are adverse cutaneous reactions. Despite the fact that these 2 cutaneous reactions differ in presentation, prognosis, pathologic features, and treatment, overlap can exist between them, creating a diagnostic challenge. It has rarely been reported that AGEP overlaps or mimics TEN, while TEN which starting by multıple pustules like AGEP has not been reported. The present study reports a rare case of a 14-year-old male patient with the clinical manifestations of multiple purulent bullae caused by amoxycillin ingestion. On 3. day dermatological examination revealed flaccid bullae and epidermal splitting with positive Nikolsky’s sign on right pectoral area, erosions on oral and anogenital mucosa. Histopathologic examination showed a massive inflammatory infiltration and epidermal necrosis indicated Steven Johnson syndrome. Later on added systemic symptoms with haemodynamic, respiratory imbalance and the patient was exitus. The case is discussed to reveal whether a new clinical pattern of drug eruption has been identified. We describe a patient with TEN who presented initially with clinical features of acute generalized exanthematous pustulosis (AGEP). To the best of our knowledge, one report drug eruption with purulent bulla and epidermal necrolysis has previously been documented, and therefore the present study is the second case report of its kind. Because the initial presentation of such adverse drug reactions may vary, diagnosis is difficult and dermatologists must careful the possibility of mimics among adverse cutaneous reactions.
COVID-19 infection was first described in Wuhan, China after an increasing spread of atypical pneumonia of unknown pathogen. Unfortunately, this novel virus continues spreading causing a pandemic. Thalassemia considered one of the most common hemoglobinopathies. Beta thalassemia is the commonest type with a variety in clinical picture due to the deference in homozygous. A lot of vulnerable categories were at high risk of getting infected with the coronavirus and more even its complication. Despite the conflicting data and ongoing research on this topic, thalassemia patients were categorized among the high-risk population. Here we present a case series describing the clinical progression of two splenectomised patients who has transfusion dependent beta thalassemia major.
Takotsubo syndrome (TTS) is characterised by transient regional wall motion abnormalities of the left or right ventricles often associated with new ECG changes (including ST-segment elevations, ST-segment depressions, T-wave inversions and QTc prolongation) in the absence of a culprit atherosclerotic artery which could explain the ventricular dysfunction. In this article we present an unusual case of recurrent TTS following electrical cardioversion in a 61 year old female patient who was admitted to our unit.
Metastatic pancreatic adenocarcinoma to the urinary bladder is extremely rare and has only been reported 4 cases worldwide. We describe such a case presented with hematuria and dysuria after ten months of the initial diagnosis. Immunohistochemistry helped to confirm the diagnosis of metachronous metastasis. Six months after being diagnosed with the bladder metastasis, progression with severe right hydronephrosis and mild dilatation of the left pyelocaliceal system palliated with an UventaTM metallic ureteral stent and a double J ureteric catheter.
CML is a chronic myeloproliferative disorder associated with activating mutations in tyrosine kinases forming a BCR-ABL fusion gene, causing hyperproliferation of neoplastic myeloid progenitors [1,2]. The incidence of CML peaks in the fourth and fifth decades of life . In the United States, nearly 4,500 cases are diagnosed annually . The onset of the disease is insidious due to the nonspecific initial “B symptoms,” such as increased fatigability, weight loss and weakness. The natural history of CML is slow with a median survival of three years if untreated [3,4]. The current treatment is targeted therapies to the BCR-ABL tyrosine kinase using imatinib or nilotinib and hydroxyurea. Although B symptoms are common, priapism can be an initial presentation of CML in 1-5% of cases . Priapism is a urological emergency defined by a sustained erection of four or more hours. Hyperviscous blood in leukemias, such as CML, prevents appropriate venous drainage of the corpora cavernosa, resulting in failure of detumescence . This case reports highlights priapism as a presenting sign of CML and reviews the pathophysiology between the association.
It is well known in the literature that adult ptosis can be induced or worsen by cataract surgery even with modern sutureless clear cornea phacoemulsification. [1, 2, 3, 4,5,6,7,8] We are presenting this unusual case was the opposite. The ptosis resolved after cataract surgery. A possible effect from the successful management of dry eye disease before cataract surgery is explained. Drooping of the unilateral upper eyelid is unilateral ptosis. Ptosis may be myogenic, neurogenic, and aponeurotic from healthy aging, injury, eye diseases. [9, 10] Ptosis also can be associated with hard contact lens wear, immunological, degenerative, or hereditary disorders, tumors, or infections.  Patients with ptosis often present with a lower position of the upper eyelid, complain of a tired appearance, and defect in their superior visual field even blurred vision. The levator muscle controls the position of the eyelid and is innervated by the oculomotor nerve. The Mueller muscle also controls partially by providing sympathetic innervation. The deficiency of these two muscles may cause ptosis.  Hering’s law of motor correspondence of a ptosis lid can affect the contralateral lid position [5, 7] as the levator muscles work in synchrony with each other. Therefore, unilateral ptosis can induce a retraction of the contralateral lid or a pseudo retraction. When ptosis is causing visual field defects, the innervation input to both eyelids will increase to reduce the ptosis. There will be a compensatory elevation of eyebrow to reduce the amount of ptosis.  These phenomena need to be considered in the evaluation of unilateral ptosis for surgery. Another essential examination, such as Margin Reflex Distance 1 (MRD1), is the crucial measurement for ptosis besides levator function and palpebral fissure. MRD1 is the distance from the margin of the upper lid to the central corneal reflex (normal is between 4.0-4.5 mm)….