Maple Syrup Urine Disease (MSUD)

A typical case of MSUD

PRESENTATION: 

8 day old Term, AGA male baby, Parents had a non

 consanguinous marriage with no H/o unexplained death in family.
Baby presented with poor feeding, lethargy, persistent seizures, failure to thrive.
O/E baby was drowsy with tonic posturing of all limbs.


BIOCHEMICAL AND OTHER EVALUATION: 
Serum electrolytes, Calcium , Magnesium were normal.
Urine ketones positive
EEG Showed focal sharp wave activity over Left fronto-temporal areas.

CT revealed gross diffuse cerebral edema with involvement of the posterior fossa also

MRI FLAIR : Hyperintensities involving deep cerebellar regions with involvement of brainstem, thalami and corticospinal tracts.

MRI Diffusion : Restricted diffusion involving deep cerebellar regions with involvement of brainstem, thalami and corticospinal tracts.


1 week later Tandem Mass Spectroscopy revealed increased levels of branched chain amino acids (Valine, Leucineand Isoleucine) –confirming the diagnosis of MSUD

DISCUSSION:

Etiology: Autosomal recessive, Branched chain organic aciduria resulting from abnormalities of enzyme catabolism of branched chain amino acids. It leads to accumulation of BCAA and metabolites (neurotoxic). Accumulation of leucine in particular causes neurological symptoms. Increased Plasma isoleucine is associated with maple syrup odour.

Epidemiology : 1:850,000 general population, but can be as frequent as 1:170 in population isolates

Presentation:

Normal at birth , Presents after disease free interval, usually within the 4-7 days of life with poor feeding, vomiting, poor weight gain, increasing lethargy. Patients in crisis often smell like maple syrup

Maple syrup odor may be difficult to identify in first days of life unless urine soaked diaper is allowed to dry

Tandem mass spectrometry shortens diagnosis time

Mimic of sepsis: Acute encephalopathy, vomiting, seizures, neurological distress, lethargy, coma,

Plasma detection of alloisoleucine is diagnostic for MSUD

Typical EEG : "Comb-like-rhythms“

IMAGING FEATURES :
Classic appearing MSUD edema involving : Cerebellarwhite matter, brain stem, globuspallidus, thalamus, cerebral peduncles, corticospinaltracts (to cortex)
CT Findings
NECT : Diffuse edema NOT sparing brainstem and cerebellum
MR Findings
TlWI: decreased Signal intensity, margins may be sharp
T2WI : Generalized and MSUD edema
FLAIR: Generalized and MSUD edema
DWI : Marked restriction and decreased ADC (MSUD edema = intramyelinic)
MRS: Broad peak at chemical shift of 0.9 ppm
Ultrasonographic Findings
Increased Echogenicityof globuspallidi, periventricularwhite matter, and areas typically involved by MSUD edema


Treatment:
Acute "metabolic rescue" to reverse cerebral edema. May require hemodialysis during acute crisis to limit neurotoxicity/damage
Metabolically appropriate diet (protein-modified)minimizes severity
Prevent deficiencies of essential amino acids
Dietary therapy must be lifelong
Orthotopic liver transplantation increases availability of BCKD (rarely used)
Gene therapy experimental

Torsion testis - CASE STUDY

Hi guys.....posting after a really long time....
This is my first case of torsion testis.

Torsion testis

Findings :

Left testis was enlarged in size and heterogenous in apperance and most importantly NOT taking any vascularity. Right testis is there for comparison at the same blood flow settings.

Left cord was inflamed and hyperechoic in appearance and the vessels showed a 'whirlpool' appearance.

DISCUSSION

Introduction

Testicular torsion is when the spermatic cord to a testicle twists, cutting off the blood supply. The most common symptom is acute testicular pain and the most common underlying cause is a congenital malformation known as a "bell-clapper deformity". The diagnosis is often made clinically but if it is in doubt an ultrasound is helpful in ruling in or out the condition. Emergency diagnosis and treatment is required in order to save the viability of the testicle.

Signs and symptoms

Testicular torsion usually presents with an acute onset of diffuse testicular pain and tenderness of less than 6 hours of duration. There is often an absent or decreased cremasteric reflex. Many of the symptoms of testicular torsion are similar to the infection epididymitis.

Risk factors

Congenital

Conditions that allow the testicle to rotate predispose to torsion. A congenital malformation of the processus vaginalis known as the "bell-clapper deformity" accounts for 90% of all cases. In this condition, rather than the testes attaching posteriorly to the inner lining of the scrotum by the mesorchium, the mesorchium terminates early and the testis is free floating in the tunica vaginalis.

Size

A larger testicle either due to normal variation or a tumor increases the risk of torsion.

Temperature

Torsions are sometimes called "winter syndrome". This is because they often happen in winter, when it is cold outside. The scrotum of a man who has been lying in a warm bed is relaxed. When he arises, his scrotum is exposed to the colder room air. If the spermatic cord is twisted while the scrotum is loose, the sudden contraction that results from the abrupt temperature change can trap the testicle in that position. The result is a testicular torsion.

Diagnosis

Immediate testing for torsion is indicated when the onset of testicular pain is sudden and/or severe. In general a doppler ultrasound should be obtained only in low suspicion cases to rule out torsion while in those cases with a convincing history and physical exam immediate surgical detorsion (Derotation) is reasonable.

Clinical exam

Prehn's sign though a classic physical exam finding has not been found to be reliable in distinguishing torsion from other causes of testicular pain such asepididymitis. In cases of true torsion the cremasteric reflex is typically absent, the scrotum is generally not very swollen, and the affected testis may have a horizontal lie.

Imaging

A doppler ultrasound scan of the scrotum is nearly 100% accurate at detecting torsion. It is identified by the absence of blood flow in the twisted testicle, which distinguishes the condition from epididymitis.

Pathophysiology

Torsion is due to a mechanical twisting process. It is also believed that torsion occurring during fetal development can lead to the so-called neonatal torsion orvanishing testis, and is one of the causes of an infant being born with monorchism (one testicle).

Treatment

With prompt diagnosis and treatment the testicle can be saved in a high number of cases. In some cases the testicle can untwist on its own or it can be manually untwisted, which can be attempted with pain relief as the guide for successful detorsion. Manual detorsion is successful in 26.5% to greater than 80% of patients based upon a number of reviewed studies.

Testicular torsion is a surgical emergency that needs immediate intervention. If treated within 6 hours, there is an excellent chance (90%) of saving the testicle. Within 12 hours the rate decreases to 50%, within 24 hours is 10%, and after 24 hours the rate approaches 0. Once the testicle is dead it must be removed to prevent gangrenous infection.

Epidemiology

Torsion is most frequent among adolescents with about 65% of cases presenting between 12 – 18 years of age. It occurs in about 1 in 160 males or 1 in 4000 males per year before 25 years of age.